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Bilateral congenital or childhood onset cataracts v2.98 | ABHD12 | Ivone Leong Tag for-review was removed from gene: ABHD12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.98 | ABHD12 | Ivone Leong commented on gene: ABHD12: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.97 | ABHD12 |
Ivone Leong Source Expert Review Green was added to ABHD12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Bilateral congenital or childhood onset cataracts v2.45 | ABHD12 | Ivone Leong Classified gene: ABHD12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.45 | ABHD12 | Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association; however, the GMS specialist group should review whether this gene should be included in the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.45 | ABHD12 | Ivone Leong Gene: abhd12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.44 | ABHD12 | Ivone Leong Tag for-review tag was added to gene: ABHD12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.44 | ABHD12 | Ivone Leong Publications for gene: ABHD12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.43 | ABHD12 | Ivone Leong Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674; PHARC syndrome, MONDO:0012984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.6 | ABHD12 | Zornitza Stark reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32077159, 29571850, 28448692, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes |