| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic hearing loss v3.7 | GREB1L | Arina Puzriakova Tag Q2_21_rating was removed from gene: GREB1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.7 | GREB1L | Arina Puzriakova reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v3.6 | GREB1L |
Arina Puzriakova Source NHS GMS was added to GREB1L. Source Expert Review Green was added to GREB1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v2.242 | GREB1L | Eleanor Williams Tag gene-checked tag was added to gene: GREB1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.174 | GREB1L | Eleanor Williams Classified gene: GREB1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.174 | GREB1L | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating following GMS review. 4 cases with non-syndromic hearing loss now reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.174 | GREB1L | Eleanor Williams Gene: greb1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.173 | GREB1L | Eleanor Williams Tag Q2_21_rating tag was added to gene: GREB1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.173 | GREB1L | Eleanor Williams Phenotypes for gene: GREB1L were changed from Deafness, autosomal dominant 80, MIM# 619274 to Deafness, autosomal dominant 80 OMIM:619274; deafness, autosomal dominant 80, MONDO:0030998 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.172 | GREB1L | Eleanor Williams Publications for gene: GREB1L were set to 29955957; 32585897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.171 | GREB1L | Eleanor Williams edited their review of gene: GREB1L: Changed rating: GREEN; Changed publications to: 29955957, 32585897, 29100090; Changed phenotypes to: Deafness, autosomal dominant 80 OMIM:619274, deafness, autosomal dominant 80, MONDO:0030998; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.171 | GREB1L | Eleanor Williams commented on gene: GREB1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.162 | GREB1L |
Zornitza Stark gene: GREB1L was added gene: GREB1L was added to Hearing loss. Sources: Literature Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GREB1L were set to 29955957; 32585897 Phenotypes for gene: GREB1L were set to Deafness, autosomal dominant 80, MIM# 619274 Review for gene: GREB1L was set to GREEN gene: GREB1L was marked as current diagnostic Added comment: DFNA80 is characterized by nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves. Four unrelated families reported, no comment on a renal phenotype. Note variants in this gene are also associated with renal agenesis. Sources: Literature |
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