DFNB63
MCID: DFN112
MIFTS: 39

Deafness, Autosomal Recessive 63 (DFNB63)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Recessive 63

MalaCards integrated aliases for Deafness, Autosomal Recessive 63:

Name: Deafness, Autosomal Recessive 63 57 29 13 6 70
Dfnb63 57 12 72
Autosomal Recessive Nonsyndromic Deafness 63 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63 72
Deafness, Autosomal Recessive, Type 63 39
Deafness, Autosomal Recessive, 63 72
Autosomal Recessive Deafness 63 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
congenital onset
hearing loss is nonprogressive

Inheritance:
autosomal recessive


HPO:

31
deafness, autosomal recessive 63:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110515
OMIM® 57 611451
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1969621
SNOMED-CT via HPO 68 258211005 700453005
UMLS 70 C1969621

Summaries for Deafness, Autosomal Recessive 63

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 63: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 63, also known as dfnb63, is related to nonsyndromic deafness and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 63 is LRTOMT (Leucine Rich Transmembrane And O-Methyltransferase Domain Containing), and among its related pathways/superpathways are RhoGDI Pathway and Cytoskeleton remodeling_RalA regulation pathway. Related phenotypes are congenital sensorineural hearing impairment and behavior/neurological

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the LRTOMT gene on chromosome 11q13.

More information from OMIM: 611451 PS220290

Related Diseases for Deafness, Autosomal Recessive 63

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Recessive 63 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 30.2 TOMT MYH9 LRTOMT
2 branchiootic syndrome 1 29.9 TMC1 PJVK MYO7A
3 deafness, autosomal recessive 2 29.4 TMC1 PJVK MYO7A MYO15A
4 autosomal recessive nonsyndromic deafness 28.5 TMIE TMC2 TMC1 MYO7A MYO15A LRTOMT
5 sensorineural hearing loss 28.2 TMIE TMC1 OTOA MYO7A MYO15A MYH9
6 rare genetic deafness 28.2 TOMT TMIE TMC1 PJVK OTOA MYO7A
7 deafness, autosomal recessive 13 10.2 TMC1 PJVK
8 deafness, autosomal dominant 27 10.2 TMIE MYO15A
9 deafness, autosomal recessive 25 10.2 PJVK MYO15A
10 deafness, autosomal recessive 49 10.1 PJVK MYO15A
11 deafness, autosomal recessive 79 10.1 TMC1 MYO15A
12 deafness, y-linked 1 10.1 TMC2 TMC1
13 deafness, autosomal recessive 93 10.1 TMIE PJVK LRTOMT
14 deafness, autosomal recessive 15 10.1 PJVK MYO15A
15 autosomal recessive nonsyndromic deafness 32 10.1 PJVK OTOA
16 deafness, autosomal recessive 24 10.1 PJVK MYO15A LRTOMT
17 deafness, autosomal recessive 77 10.1 PJVK LHFPL5
18 deafness, autosomal recessive 27 10.1 TMIE TMC1 PJVK
19 deafness, autosomal recessive 3 10.1 MYO7A MYO15A
20 auditory neuropathy spectrum disorder 10.1 PJVK MYO7A
21 deafness, autosomal recessive 8 10.1 TMC1 PJVK MYO15A
22 myh-9 related disease 10.1 MYO7A MYH9
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
24 deafness, autosomal dominant 48 10.0 MYO7A MYO15A
25 deafness, autosomal recessive 18a 10.0 MYO7A MYO15A
26 deafness, autosomal recessive 53 10.0 PJVK LRTOMT LHFPL5
27 deafness, autosomal dominant 30 10.0 TMIE TMC2 TMC1
28 y-linked deafness 10.0 TMIE TMC2 TMC1
29 y-linked monogenic disease 10.0 TMIE TMC2 TMC1
30 usher syndrome, type iid 10.0 MYO7A MYO15A
31 deafness, autosomal dominant 3b 10.0 OTOA LHFPL5
32 deafness, autosomal dominant 15 10.0 TMC1 MYO7A
33 deafness, autosomal recessive 37 10.0 MYO7A MYO15A
34 deafness, autosomal recessive 30 10.0 MYO7A MYO15A
35 deafness, autosomal recessive 66 10.0 OTOA LHFPL5
36 deafness, autosomal dominant 6 9.9 MYO7A MYO15A
37 deafness, autosomal recessive 28 9.9 TMIE OTOA MYO15A
38 deafness, autosomal dominant 22 9.9 MYO7A MYO15A
39 deafness, autosomal dominant 11 9.9 MYO7A MYO15A
40 deafness, autosomal dominant 17 9.9 MYO7A MYO15A MYH9
41 deafness, autosomal dominant 1, with or without thrombocytopenia 9.9 MYO7A MYO15A
42 deafness, autosomal recessive 35 9.9 TMIE PJVK OTOA LRTOMT
43 deafness, autosomal recessive 85 9.9 PJVK OTOA LHFPL5
44 vestibular disease 9.9 MYO7A MYO15A
45 deafness, autosomal recessive 23 9.9 TMC1 MYO7A MYO15A
46 pendred syndrome 9.8 TMC1 MYO7A MYO15A
47 usher syndrome, type if 9.8 MYO7A MYO15A
48 deafness, autosomal recessive 48 9.8 TMC2 TMC1 MYO7A
49 usher syndrome, type iic 9.8 MYO7A MYO15A
50 usher syndrome, type iia 9.8 TMC1 OTOA MYO7A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 63:



Diseases related to Deafness, Autosomal Recessive 63

Symptoms & Phenotypes for Deafness, Autosomal Recessive 63

Human phenotypes related to Deafness, Autosomal Recessive 63:

31
# Description HPO Frequency HPO Source Accession
1 congenital sensorineural hearing impairment 31 HP:0008527

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
normal electroretinogram

Head And Neck Ears:
no vestibular dysfunction
hearing loss, sensorineural, prelingual, severe to profound (affecting all frequencies)
downsloping audiogram

Clinical features from OMIM®:

611451 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 63:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 FGF3 LHFPL5 LRTOMT MYO15A MYO7A NUMA1
2 hearing/vestibular/ear MP:0005377 9.7 FGF3 LHFPL5 LRTOMT MYH9 MYO15A MYO7A
3 nervous system MP:0003631 9.4 FGF3 LHFPL5 LRTOMT MYH9 MYO15A MYO7A

Drugs & Therapeutics for Deafness, Autosomal Recessive 63

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 63

Genetic Tests for Deafness, Autosomal Recessive 63

Genetic tests related to Deafness, Autosomal Recessive 63:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 63 29 LRTOMT

Anatomical Context for Deafness, Autosomal Recessive 63

Publications for Deafness, Autosomal Recessive 63

Articles related to Deafness, Autosomal Recessive 63:

# Title Authors PMID Year
1
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. 61 6 57
18953341 2008
2
A catechol-O-methyltransferase that is essential for auditory function in mice and humans. 57 6
18794526 2008
3
A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4. 61 57
17211611 2007
4
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4. 61 57
17166180 2007
5
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. 57 61
17066295 2007
6
Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt). 61
28534737 2017
7
Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss. 61
24551789 2013
8
The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population. 61
23053991 2012
9
Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss. 61
23113071 2011

Variations for Deafness, Autosomal Recessive 63

ClinVar genetic disease variations for Deafness, Autosomal Recessive 63:

6 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRTOMT , TOMT NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln) SNV Pathogenic 543 rs137853185 GRCh37: 11:71817140-71817140
GRCh38: 11:72106094-72106094
2 LRTOMT , TOMT NM_001145308.4(LRTOMT):c.313T>C (p.Trp105Arg) SNV Pathogenic 544 rs137853186 GRCh37: 11:71817211-71817211
GRCh38: 11:72106165-72106165
3 LRTOMT , TOMT NM_001145308.4(LRTOMT):c.328G>A (p.Glu110Lys) SNV Pathogenic 545 rs137853187 GRCh37: 11:71817226-71817226
GRCh38: 11:72106180-72106180
4 LRTOMT , TOMT NM_001145308.4(LRTOMT):c.333C>G (p.Tyr111Ter) SNV Pathogenic 546 rs137853188 GRCh37: 11:71817231-71817231
GRCh38: 11:72106185-72106185
5 LRTOMT , TOMT NM_001145308.4(LRTOMT):c.358+4A>C SNV Pathogenic 179792 rs545947177 GRCh37: 11:71817260-71817260
GRCh38: 11:72106214-72106214
6 ANAPC15 , LRTOMT , TOMT NM_001145308.4(LRTOMT):c.614_617dup (p.Ser207fs) Duplication Likely pathogenic 208717 rs797044907 GRCh37: 11:71819708-71819709
GRCh38: 11:72108662-72108663
7 ANAPC15 , LRTOMT , TOMT NM_001330321.2(ANAPC15):c.319-343_319-342insCGAG Insertion Likely pathogenic 627450 rs1565331646 GRCh37: 11:71818993-71818994
GRCh38: 11:72107947-72107948
8 LRRC51 , LRTOMT NM_001145308.4(LRTOMT):c.-52G>C SNV Conflicting interpretations of pathogenicity 226718 rs149637884 GRCh37: 11:71806057-71806057
GRCh38: 11:72095011-72095011
9 LRRC51 , LRTOMT NM_001145308.4(LRTOMT):c.-149C>T SNV Conflicting interpretations of pathogenicity 305986 rs145851613 GRCh37: 11:71804714-71804714
GRCh38: 11:72093668-72093668
10 LRRC51 , LRTOMT NM_001145308.5(LRTOMT):c.-174A>G SNV Uncertain significance 881327 GRCh37: 11:71804689-71804689
GRCh38: 11:72093643-72093643
11 LRTOMT , TOMT NM_001145308.4(LRTOMT):c.172C>T (p.Arg58Ter) SNV Uncertain significance 632174 rs1298804148 GRCh37: 11:71817070-71817070
GRCh38: 11:72106024-72106024
12 ANAPC15 , LRTOMT , TOMT NM_001145308.4(LRTOMT):c.538G>A (p.Gly180Ser) SNV Uncertain significance 587638 rs529549122 GRCh37: 11:71819148-71819148
GRCh38: 11:72108102-72108102
13 ANAPC15 , LRTOMT , TOMT NM_001145308.5(LRTOMT):c.*205C>T SNV Uncertain significance 881378 GRCh37: 11:71820176-71820176
GRCh38: 11:72109130-72109130
14 ANAPC15 , LRTOMT , TOMT NM_001145308.5(LRTOMT):c.*244C>A SNV Uncertain significance 881379 GRCh37: 11:71820215-71820215
GRCh38: 11:72109169-72109169
15 ANAPC15 , LRTOMT NM_001145308.5(LRTOMT):c.*1488T>G SNV Uncertain significance 881433 GRCh37: 11:71821459-71821459
GRCh38: 11:72110413-72110413
16 ANAPC15 , LRTOMT NM_001145308.5(LRTOMT):c.*1544A>G SNV Uncertain significance 881434 GRCh37: 11:71821515-71821515
GRCh38: 11:72110469-72110469
17 ANAPC15 , LRTOMT NM_001145308.5(LRTOMT):c.*1608G>C SNV Uncertain significance 881435 GRCh37: 11:71821579-71821579
GRCh38: 11:72110533-72110533
18 LRTOMT , NUMA1 NM_006185.4(NUMA1):c.-103+136G>A SNV Uncertain significance 881721 GRCh37: 11:71791368-71791368
GRCh38: 11:72080322-72080322
19 LRTOMT , NUMA1 NM_006185.4(NUMA1):c.-103+12G>A SNV Uncertain significance 881722 GRCh37: 11:71791492-71791492
GRCh38: 11:72080446-72080446
20 LRTOMT , NUMA1 NM_006185.4(NUMA1):c.-127A>C SNV Uncertain significance 881723 GRCh37: 11:71791528-71791528
GRCh38: 11:72080482-72080482
21 LRTOMT , TOMT NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) SNV Uncertain significance 881770 GRCh37: 11:71817225-71817225
GRCh38: 11:72106179-72106179
22 ANAPC15 , LRTOMT , TOMT NM_001145308.5(LRTOMT):c.*400C>A SNV Uncertain significance 881824 GRCh37: 11:71820371-71820371
GRCh38: 11:72109325-72109325
23 LRTOMT , NUMA1 NM_006185.4(NUMA1):c.-149G>C SNV Uncertain significance 882878 GRCh37: 11:71791550-71791550
GRCh38: 11:72080504-72080504
24 ANAPC15 , LRTOMT , TOMT NM_001145308.5(LRTOMT):c.373C>T (p.Arg125Trp) SNV Uncertain significance 882922 GRCh37: 11:71818983-71818983
GRCh38: 11:72107937-72107937
25 ANAPC15 , LRTOMT , TOMT NM_001145308.5(LRTOMT):c.460C>G (p.Pro154Ala) SNV Uncertain significance 882923 GRCh37: 11:71819070-71819070
GRCh38: 11:72108024-72108024
26 ANAPC15 , LRTOMT , TOMT NM_001145308.5(LRTOMT):c.*580C>T SNV Uncertain significance 882974 GRCh37: 11:71820551-71820551
GRCh38: 11:72109505-72109505
27 ANAPC15 , LRTOMT , TOMT NM_001145308.5(LRTOMT):c.*638C>T SNV Uncertain significance 882975 GRCh37: 11:71820609-71820609
GRCh38: 11:72109563-72109563
28 ANAPC15 , LRTOMT NM_001145308.5(LRTOMT):c.*851G>A SNV Uncertain significance 882976 GRCh37: 11:71820822-71820822
GRCh38: 11:72109776-72109776
29 ANAPC15 , LRTOMT NM_001145308.5(LRTOMT):c.*860G>A SNV Uncertain significance 882977 GRCh37: 11:71820831-71820831
GRCh38: 11:72109785-72109785
30 LRTOMT NC_000011.10:g.72080754A>G SNV Uncertain significance 883667 GRCh37: 11:71791800-71791800
GRCh38: 11:72080754-72080754
31 LRTOMT NC_000011.10:g.72080785T>C SNV Uncertain significance 883668 GRCh37: 11:71791831-71791831
GRCh38: 11:72080785-72080785
32 ANAPC15 , LRTOMT , TOMT NM_001145308.5(LRTOMT):c.650G>A (p.Arg217Gln) SNV Uncertain significance 883718 GRCh37: 11:71819745-71819745
GRCh38: 11:72108699-72108699
33 ANAPC15 , LRTOMT , TOMT NM_001145308.5(LRTOMT):c.754C>T (p.Arg252Cys) SNV Uncertain significance 883719 GRCh37: 11:71819849-71819849
GRCh38: 11:72108803-72108803
34 ANAPC15 , LRTOMT NM_001145308.5(LRTOMT):c.*1225T>A SNV Uncertain significance 883772 GRCh37: 11:71821196-71821196
GRCh38: 11:72110150-72110150
35 LRRC51 , LRTOMT NM_001145308.4(LRTOMT):c.-344G>A SNV Uncertain significance 305981 rs886048626 GRCh37: 11:71791909-71791909
GRCh38: 11:72080863-72080863
36 LRRC51 , LRTOMT NM_001145308.4(LRTOMT):c.-123T>C SNV Uncertain significance 305987 rs369105155 GRCh37: 11:71804740-71804740
GRCh38: 11:72093694-72093694
37 LRRC51 , LRTOMT NM_001145308.4(LRTOMT):c.-322+5G>A SNV Uncertain significance 305982 rs767961368 GRCh37: 11:71791936-71791936
GRCh38: 11:72080890-72080890
38 LRRC51 , LRTOMT NM_001145308.4(LRTOMT):c.-57G>A SNV Uncertain significance 305988 rs145488053 GRCh37: 11:71806052-71806052
GRCh38: 11:72095006-72095006
39 LRRC51 , LRTOMT NM_001145308.4(LRTOMT):c.-254G>T SNV Uncertain significance 305985 rs144139038 GRCh37: 11:71804609-71804609
GRCh38: 11:72093563-72093563
40 LRRC51 , LRTOMT NM_001145308.4(LRTOMT):c.-305G>A SNV Uncertain significance 305983 rs886048627 GRCh37: 11:71804558-71804558
GRCh38: 11:72093512-72093512
41 LRRC51 , LRTOMT NM_001145308.4(LRTOMT):c.-322+1G>T SNV Uncertain significance 632173 rs1565309133 GRCh37: 11:71791932-71791932
GRCh38: 11:72080886-72080886
42 ANAPC15 , LRTOMT , TOMT NM_001145308.4(LRTOMT):c.397G>C (p.Ala133Pro) SNV Uncertain significance 227535 rs76657474 GRCh37: 11:71819007-71819007
GRCh38: 11:72107961-72107961
43 LRTOMT , TOMT NM_001145308.4(LRTOMT):c.222A>G (p.Ser74=) SNV Uncertain significance 44038 rs397516626 GRCh37: 11:71817120-71817120
GRCh38: 11:72106074-72106074
44 LRTOMT NM_001145308.4(LRTOMT):c.-481G>T SNV Uncertain significance 305978 rs886048623 GRCh37: 11:71791772-71791772
GRCh38: 11:72080726-72080726
45 ANAPC15 , LRTOMT NM_001145308.4(LRTOMT):c.*1185G>A SNV Uncertain significance 306014 rs531848254 GRCh37: 11:71821156-71821156
GRCh38: 11:72110110-72110110
46 ANAPC15 , LRTOMT , TOMT NM_001145308.4(LRTOMT):c.568G>A (p.Val190Met) SNV Uncertain significance 305995 rs886048631 GRCh37: 11:71819663-71819663
GRCh38: 11:72108617-72108617
47 ANAPC15 , LRTOMT NM_001145308.4(LRTOMT):c.*1788C>G SNV Uncertain significance 306020 rs886048640 GRCh37: 11:71821759-71821759
GRCh38: 11:72110713-72110713
48 ANAPC15 , LRTOMT , TOMT NM_001145308.4(LRTOMT):c.797G>A (p.Arg266His) SNV Uncertain significance 306001 rs776760828 GRCh37: 11:71819892-71819892
GRCh38: 11:72108846-72108846
49 ANAPC15 , LRTOMT , TOMT NM_001145308.4(LRTOMT):c.649C>T (p.Arg217Trp) SNV Uncertain significance 305998 rs72953778 GRCh37: 11:71819744-71819744
GRCh38: 11:72108698-72108698
50 ANAPC15 , LRTOMT , TOMT NM_001145308.4(LRTOMT):c.*336C>T SNV Uncertain significance 306006 rs886048638 GRCh37: 11:71820307-71820307
GRCh38: 11:72109261-72109261

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 63:

72
# Symbol AA change Variation ID SNP ID
1 LRTOMT p.Arg81Gln VAR_054955 rs137853185
2 LRTOMT p.Trp105Arg VAR_054956 rs137853186
3 LRTOMT p.Glu110Lys VAR_054957 rs137853187

Expression for Deafness, Autosomal Recessive 63

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 63.

Pathways for Deafness, Autosomal Recessive 63

Pathways related to Deafness, Autosomal Recessive 63 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 MYO7A MYO15A MYH9 FGF3
2 10.68 MYO7A MYO15A MYH9

GO Terms for Deafness, Autosomal Recessive 63

Cellular components related to Deafness, Autosomal Recessive 63 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 9.5 NUMA1 MYO7A MYH9
2 myosin complex GO:0016459 9.33 MYO7A MYO15A MYH9
3 stereocilium bundle GO:0032421 9.26 MYO15A LHFPL5
4 stereocilium base GO:0120044 8.96 PJVK MYO7A
5 stereocilium tip GO:0032426 8.8 TMC2 TMC1 LHFPL5

Biological processes related to Deafness, Autosomal Recessive 63 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.65 TPCN2 TMC2 TMC1
2 vesicle transport along actin filament GO:0030050 9.46 MYO7A MYO15A
3 actin filament-based movement GO:0030048 9.43 MYO7A MYH9
4 inner ear morphogenesis GO:0042472 9.43 TMIE MYO7A MYO15A
5 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A LHFPL5
6 regulation of calcium ion transmembrane transport GO:1903169 9.37 TMC2 TMC1
7 auditory receptor cell development GO:0060117 9.32 TMC1 LRTOMT
8 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.26 TMC2 TMC1 PJVK LHFPL5
9 sensory perception of sound GO:0007605 9.23 TMIE TMC1 PJVK OTOA MYO7A MYO15A
10 vestibular reflex GO:0060005 9.16 TMC2 TMC1

Molecular functions related to Deafness, Autosomal Recessive 63 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.54 MYO7A MYO15A MYH9
2 motor activity GO:0003774 9.5 MYO7A MYO15A MYH9
3 voltage-gated calcium channel activity GO:0005245 9.33 TPCN2 TMC2 TMC1
4 mechanosensitive ion channel activity GO:0008381 9.26 TMC2 TMC1
5 microfilament motor activity GO:0000146 9.13 MYO7A MYO15A MYH9
6 actin-dependent ATPase activity GO:0030898 8.8 MYO7A MYO15A MYH9

Sources for Deafness, Autosomal Recessive 63

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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