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DFNB28
MCID: DFN121
MIFTS: 34

Deafness, Autosomal Recessive 28 (DFNB28)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Deafness, Autosomal Recessive 28

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MalaCards integrated aliases for Deafness, Autosomal Recessive 28:

Name: Deafness, Autosomal Recessive 28 57 29 13 6 70
Dfnb28 57 12 72
Autosomal Recessive Nonsyndromic Deafness 28 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 28 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 28 72
Deafness, Autosomal Recessive, Type 28 39
Deafness, Autosomal Recessive, 28 72
Autosomal Recessive Deafness 28 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
prelingual onset


HPO:

31
deafness, autosomal recessive 28:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110486
OMIM® 57 609823
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1853276
SNOMED-CT via HPO 68 258211005
UMLS 70 C1853276
Sources

Summaries for Deafness, Autosomal Recessive 28

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UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 28: 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 28, also known as dfnb28, is related to deafness, autosomal recessive 93 and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Recessive 28 is TRIOBP (TRIO And F-Actin Binding Protein). Related phenotypes are severe 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 TRIOBP gene on chromosome 22q13.

More information from OMIM: 609823 PS220290
Sources

Related Diseases for Deafness, Autosomal Recessive 28

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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 28 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 93 29.1 TRIOBP TMIE OTOF CABP2
2 nonsyndromic hearing loss 28.9 TRIOBP TMIE TECTA OTOF MYO15A
3 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 28.5 TRIOBP TMIE TECTA OTOF OTOA MYO15A
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 27.1 TRIOBP TPRN TMIE TECTA OTOF OTOA
5 deafness, x-linked 3 10.2 TRIOBP TPRN
6 deafness, autosomal recessive 39 10.1 TRIOBP OTOA
7 deafness, autosomal dominant 51 10.1 TPRN OTOA
8 deafness, autosomal dominant 3b 10.1 TPRN OTOA
9 deafness, autosomal recessive 91 10.1 TPRN OTOA
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
11 deafness, autosomal dominant 20 10.0 TPRN ESPNL
12 deafness, autosomal recessive 79 10.0 TPRN MYO15A
13 deafness, autosomal dominant 17 10.0 TPRN MYO15A
14 y-linked deafness 10.0 TMIE OTOF
15 y-linked monogenic disease 10.0 TMIE OTOF
16 hereditary hearing loss and deafness 10.0 GRXCR1 ESPN
17 deafness, autosomal recessive 8 10.0 OTOF MYO15A
18 deafness, autosomal recessive 85 10.0 OTOF OTOA
19 deafness, autosomal recessive 37 10.0 TRIOBP TPRN MYO15A
20 deafness, autosomal dominant 22 10.0 TRIOBP TPRN MYO15A
21 deafness, autosomal recessive 1b 9.9 TPRN MYO15A ESPN
22 deafness, autosomal dominant 27 9.9 TMIE MYO15A GRXCR1
23 deafness, autosomal dominant 2b 9.9 TRIOBP CABP2
24 deafness, autosomal recessive 30 9.9 MYO15A ESPNL ESPN
25 deafness, autosomal dominant 6 9.9 TECTA MYO15A
26 x-linked nonsyndromic deafness 9.9 TPRN OTOF
27 deafness, autosomal recessive 67 9.9 TMIE CABP2
28 auditory neuropathy, autosomal dominant, 1 9.8 OTOF GRXCR1 ESPNL
29 deafness, autosomal dominant 12 9.8 TECTA OTOA
30 deafness, autosomal recessive 63 9.8 TMIE OTOA MYO15A
31 erythrokeratodermia variabilis et progressiva 1 9.8 TMIE TECTA OTOA
32 autosomal recessive nonsyndromic deafness 3 9.8 TPRN OTOF MYO15A
33 vestibular disease 9.8 OTOF MYO15A
34 deafness, autosomal recessive 25 9.8 TRIOBP MYO15A GRXCR1 ESPNL
35 branchiootic syndrome 1 9.8 TECTA OTOF GRXCR1
36 deafness, autosomal recessive 21 9.7 TECTA OTOA MYO15A
37 deafness, autosomal recessive 7 9.7 TMIE OTOF MYO15A
38 autosomal recessive nonsyndromic deafness 36 9.7 TRIOBP TPRN GRXCR1 ESPNL ESPN
39 deafness, autosomal recessive 2 9.7 TECTA OTOF MYO15A
40 deafness, autosomal recessive 83 9.7 OTOF OTOA MYO15A
41 deafness, autosomal recessive 24 9.7 TRIOBP TPRN TECTA MYO15A
42 deafness, autosomal dominant 1, with or without thrombocytopenia 9.7 TRIOBP TPRN TECTA MYO15A
43 deafness, autosomal recessive 1a 9.6 OTOF OTOA
44 deafness, autosomal dominant 36 9.6 TMIE OTOF MYO15A ESPN
45 deafness, autosomal recessive 6 9.6 TRIOBP TMIE OTOA CABP2
46 non-syndromic genetic deafness 9.5 TRIOBP TECTA OTOF MYO15A
47 deafness, autosomal recessive 16 9.5 TMIE OTOF OTOA MYO15A
48 deafness, autosomal recessive 22 9.4 TRIOBP TMIE TECTA OTOA MYO15A
49 deafness, autosomal recessive 61 9.4 TRIOBP TPRN TECTA OTOF OTOA
50 deafness, autosomal recessive 35 9.4 TRIOBP TMIE OTOA GRXCR1 CABP2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 28:



Diseases related to Deafness, Autosomal Recessive 28
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Symptoms & Phenotypes for Deafness, Autosomal Recessive 28

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Human phenotypes related to Deafness, Autosomal Recessive 28:

31
# Description HPO Frequency HPO Source Accession
1 severe sensorineural hearing impairment 31 HP:0008625

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, severe to profound

Clinical features from OMIM®:

609823 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 28:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 CABP2 ESPN ESPNL GRXCR1 MYO15A OTOF
2 hearing/vestibular/ear MP:0005377 9.7 CABP2 ESPN ESPNL GRXCR1 MYO15A OTOA
3 nervous system MP:0003631 9.36 CABP2 ESPN GRXCR1 MYO15A OTOA OTOF
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 28

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Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 28

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Genetic Tests for Deafness, Autosomal Recessive 28

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Genetic tests related to Deafness, Autosomal Recessive 28:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 28 29 TRIOBP
Sources

Anatomical Context for Deafness, Autosomal Recessive 28

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Sources

Publications for Deafness, Autosomal Recessive 28

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Articles related to Deafness, Autosomal Recessive 28:

# Title Authors PMID Year
1
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. 61 57 6
16385457 2006
2
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. 57 6 61
16385458 2006
3
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. 57 61
20510926 2010
4
A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family. 61
32487028 2020
5
Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations. 61
29318123 2018
6
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment. 61
28089734 2017
7
R1 motif is the major actin-binding domain of TRIOBP-4. 61
23789641 2013
Sources

Variations for Deafness, Autosomal Recessive 28

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ClinVar genetic disease variations for Deafness, Autosomal Recessive 28:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIOBP NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) SNV Pathogenic 1491 rs118204027 GRCh37: 22:38120304-38120304
GRCh38: 22:37724297-37724297
2 TRIOBP NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) SNV Pathogenic 1492 rs118204028 GRCh37: 22:38119452-38119452
GRCh38: 22:37723445-37723445
3 TRIOBP NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) SNV Pathogenic 1493 rs118204029 GRCh37: 22:38120925-38120925
GRCh38: 22:37724918-37724918
4 TRIOBP NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) SNV Pathogenic 1494 rs118204030 GRCh37: 22:38121765-38121765
GRCh38: 22:37725758-37725758
5 TRIOBP NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) SNV Pathogenic 1495 rs118204031 GRCh37: 22:38121912-38121912
GRCh38: 22:37725905-37725905
6 TRIOBP TRIOBP, 1-BP INS, 3225C Insertion Pathogenic 1497 GRCh37:
GRCh38:
7 TRIOBP NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) SNV Pathogenic 402281 rs549095193 GRCh37: 22:38121618-38121618
GRCh38: 22:37725611-37725611
8 TRIOBP NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) SNV Pathogenic 402280 rs1060499809 GRCh37: 22:38120010-38120010
GRCh38: 22:37724003-37724003
9 TRIOBP NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) SNV Pathogenic 627485 rs1569046250 GRCh37: 22:38130634-38130634
GRCh38: 22:37734627-37734627
10 TRIOBP NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) SNV Pathogenic 627486 rs1569042693 GRCh37: 22:38122087-38122087
GRCh38: 22:37726080-37726080
11 TRIOBP NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) Deletion Pathogenic 1496 rs1601632909 GRCh37: 22:38121765-38121766
GRCh38: 22:37725758-37725759
12 TRIOBP NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) SNV Pathogenic 1490 rs118204026 GRCh37: 22:38119602-38119602
GRCh38: 22:37723595-37723595
13 TRIOBP NM_001039141.3(TRIOBP):c.1567C>T (p.Arg523Ter) SNV Pathogenic 998190 GRCh37: 22:38120130-38120130
GRCh38: 22:37724123-37724123
14 TRIOBP NM_001039141.3(TRIOBP):c.2968C>T (p.Arg990Ter) SNV Pathogenic 620199 rs1228392408 GRCh37: 22:38121531-38121531
GRCh38: 22:37725524-37725524
15 TRIOBP NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) SNV Pathogenic 504691 rs200045032 GRCh37: 22:38131357-38131357
GRCh38: 22:37735350-37735350
16 TRIOBP NM_001039141.3(TRIOBP):c.6324+204G>T SNV Pathogenic 1028478 GRCh37: 22:38155475-38155475
GRCh38: 22:37759468-37759468
17 TRIOBP NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs) Duplication Pathogenic 1034395 GRCh37: 22:38121788-38121789
GRCh38: 22:37725781-37725782
18 TRIOBP NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) Deletion Pathogenic 562075 rs1569042782 GRCh37: 22:38122196-38122208
GRCh38: 22:37726189-37726201
19 TRIO NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) SNV Likely pathogenic 449111 GRCh37: 5:14374353-14374353
GRCh38: 5:14374244-14374244
20 TRIOBP NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) SNV Likely pathogenic 930753 GRCh37: 22:38121636-38121636
GRCh38: 22:37725629-37725629
21 TRIOBP NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) SNV Likely pathogenic 627487 rs1569034190 GRCh37: 22:38106450-38106450
GRCh38: 22:37710443-37710443
22 TRIOBP NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) SNV Likely pathogenic 627488 rs1569040134 GRCh37: 22:38119389-38119389
GRCh38: 22:37723382-37723382
23 TRIOBP NM_001039141.3(TRIOBP):c.3143_3144AG[1] (p.Glu1048_Ser1049insTer) Microsatellite Likely pathogenic 495111 rs1555896285 GRCh37: 22:38121705-38121706
GRCh38: 22:37725698-37725699
24 TRIOBP NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) SNV Uncertain significance 523064 rs1555896093 GRCh37: 22:38120627-38120627
GRCh38: 22:37724620-37724620
25 TRIOBP NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) SNV Uncertain significance 547924 rs370666072 GRCh37: 22:38120581-38120581
GRCh38: 22:37724574-37724574
26 TRIOBP NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn) SNV Uncertain significance 626273 rs147691840 GRCh37: 22:38106473-38106473
GRCh38: 22:37710466-37710466
27 TRIOBP NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp) SNV Uncertain significance 626274 rs780554525 GRCh37: 22:38164156-38164156
GRCh38: 22:37768149-37768149
28 TRIOBP NM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His) SNV Uncertain significance 225500 rs370737996 GRCh37: 22:38167667-38167667
GRCh38: 22:37771660-37771660
29 TRIOBP NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) SNV Uncertain significance 165609 rs201724032 GRCh37: 22:38161714-38161714
GRCh38: 22:37765707-37765707
30 TRIOBP NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) SNV Uncertain significance 739988 rs201730395 GRCh37: 22:38131135-38131135
GRCh38: 22:37735128-37735128
31 TRIOBP NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) SNV Uncertain significance 285798 rs372134073 GRCh37: 22:38119846-38119846
GRCh38: 22:37723839-37723839
32 TRIOBP NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) SNV Uncertain significance 229363 rs138804394 GRCh37: 22:38153637-38153637
GRCh38: 22:37757630-37757630
33 TRIOBP NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) SNV Uncertain significance 229368 rs200528850 GRCh37: 22:38164123-38164123
GRCh38: 22:37768116-37768116
34 TRIOBP NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) Deletion Uncertain significance 638335 rs1569041188 GRCh37: 22:38120605-38120676
GRCh38: 22:37724598-37724669
35 TRIOBP NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) SNV Uncertain significance 828103 rs773013563 GRCh37: 22:38111849-38111849
GRCh38: 22:37715842-37715842
36 TRIOBP NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) SNV Uncertain significance 286759 rs186620158 GRCh37: 22:38120712-38120712
GRCh38: 22:37724705-37724705
37 TRIOBP NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly) SNV Uncertain significance 1034393 GRCh37: 22:38119758-38119758
GRCh38: 22:37723751-37723751
38 TRIOBP NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly) SNV Uncertain significance 1034394 GRCh37: 22:38121777-38121777
GRCh38: 22:37725770-37725770
39 TRIOBP NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter) SNV Uncertain significance 1034396 GRCh37: 22:38130826-38130826
GRCh38: 22:37734819-37734819
40 TRIOBP NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu) SNV Uncertain significance 1034397 GRCh37: 22:38165091-38165091
GRCh38: 22:37769084-37769084
41 TRIOBP NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser) SNV Uncertain significance 1034398 GRCh37: 22:38119527-38119527
GRCh38: 22:37723520-37723520
42 TRIOBP NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) SNV Likely benign 165587 rs34066624 GRCh37: 22:38129388-38129388
GRCh38: 22:37733381-37733381
43 TRIOBP NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) SNV Likely benign 178554 rs143157673 GRCh37: 22:38111897-38111897
GRCh38: 22:37715890-37715890
44 TRIOBP NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) SNV Likely benign 156028 rs140901235 GRCh37: 22:38119378-38119378
GRCh38: 22:37723371-37723371
45 TRIOBP NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) SNV Benign 165612 rs375013523 GRCh37: 22:38165274-38165274
GRCh38: 22:37769267-37769267
46 TRIOBP NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg) SNV Benign 811604 rs193043234 GRCh37: 22:38121652-38121652
GRCh38: 22:37725645-37725645
47 TRIOBP NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) Deletion Benign 198447 rs55745992 GRCh37: 22:38119755-38119757
GRCh38: 22:37723748-37723750
48 TRIOBP NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) SNV Benign 290786 rs199794705 GRCh37: 22:38120764-38120764
GRCh38: 22:37724757-37724757
49 TRIOBP NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu) SNV Benign 811578 rs41296243 GRCh37: 22:38121040-38121040
GRCh38: 22:37725033-37725033
50 TRIOBP NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) SNV Benign 287640 rs201794404 GRCh37: 22:38119197-38119197
GRCh38: 22:37723190-37723190

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 28:

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# Symbol AA change Variation ID SNP ID
1 TRIOBP p.Gly1019Arg VAR_025719 rs549095193

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Expression for Deafness, Autosomal Recessive 28

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 28.
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Pathways for Deafness, Autosomal Recessive 28

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GO Terms for Deafness, Autosomal Recessive 28

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Cellular components related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.5 TRIO TPRN OTOF MYO15A GRXCR1 ESPNL
2 stereocilium tip GO:0032426 9.26 ESPNL ESPN
3 stereocilium base GO:0120044 9.16 TRIOBP TPRN
4 stereocilium GO:0032420 9.02 TPRN MYO15A GRXCR1 ESPNL ESPN

Biological processes related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.36 TRIOBP TPRN TMIE TECTA OTOF OTOA
2 inner ear morphogenesis GO:0042472 9.26 TMIE MYO15A
3 actin filament bundle assembly GO:0051017 9.16 ESPNL ESPN
4 auditory receptor cell stereocilium organization GO:0060088 8.96 TRIOBP TPRN

Molecular functions related to Deafness, Autosomal Recessive 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 TRIOBP MYO15A ESPNL ESPN
2 actin filament binding GO:0051015 8.92 TRIOBP MYO15A ESPNL ESPN
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Sources for Deafness, Autosomal Recessive 28

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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