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| Deafness_IsolatedAndComplex v0.330 | ERAL1 |
Zornitza Stark gene: ERAL1 was added gene: ERAL1 was added to Deafness. Sources: Expert list Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERAL1 were set to 28449065 Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565 Review for gene: ERAL1 was set to AMBER Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data. Sources: Expert list |
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| Deafness_IsolatedAndComplex v0.231 | GRAP | Zornitza Stark Marked gene: GRAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.231 | GRAP | Zornitza Stark Gene: grap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.165 | GRAP |
Zornitza Stark 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 Added comment: Two apparently unrelated Turkish families reported, however same homozygous missense variant, and SNP analysis indicated identity by descent. Sources: Expert list |
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