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  3. GRAP
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Deafness_IsolatedAndComplex

Gene: GRAP

Red List (low evidence)
GRAP (GRB2-related adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000154016
EnsemblGeneIds (GRCh37): ENSG00000154016
OMIM: 604330, Gene2Phenotype
GRAP is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent.
Sources: Expert list
Created: 1 Jan 2020, 10:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 114, MIM# 618456

Publications

Created: 1 Jan 2020, 10:37 p.m.

Panel version: 0.165

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 114, MIM# 618456
OMIM
604330
Clinvar variants
Variants in GRAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grap has been classified as Red List (Low Evidence).

1 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRAP was added gene: GRAP was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: GRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRAP were set to 30610177 Phenotypes for gene: GRAP were set to Deafness, autosomal recessive 114, MIM# 618456 Review for gene: GRAP was set to RED