Activity

Filter

Cancel
Date Panel Item Activity
10 actions
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)
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