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Monogenic hearing loss v2.222 | AIFM1 | Eleanor Williams Phenotypes for gene: AIFM1 were changed from Deafness, X-linked 5, MIM#300614 to Deafness, X-linked 5, OMIM:300614 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.221 | AIFM1 | Eleanor Williams Tag for-review was removed from gene: AIFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.221 | AIFM1 | Eleanor Williams commented on gene: AIFM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.220 | AIFM1 |
Eleanor Williams Source Expert Review Green was added to AIFM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Monogenic hearing loss v2.20 | AIFM1 | Eleanor Williams Tag for-review tag was added to gene: AIFM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.20 | AIFM1 | Eleanor Williams Classified gene: AIFM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.20 | AIFM1 | Eleanor Williams Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.20 | AIFM1 | Eleanor Williams Gene: aifm1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.4 | AIFM1 | Eleanor Williams reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25986071; Phenotypes: Deafness, X-linked 5, 300614; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.4 | AIFM1 |
Zornitza Stark gene: AIFM1 was added gene: AIFM1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 25986071 Phenotypes for gene: AIFM1 were set to Deafness, X-linked 5, MIM#300614 Review for gene: AIFM1 was set to GREEN Added comment: More than 10 unrelated families described. Sources: Expert list |