Structural eye disease
Gene: HHAT
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:59 p.m. | Last Modified: 30 Jan 2023, 3:59 p.m.
Panel Version: 2.3
Pande et al:girl with multiple congenital anomalies including microphthalmia/anophthalmia with a homozygous inframe deletion (parents het), two siblings with similar phenotype were stillborn, not tested. Callier et al. 2014 describe two affected siblings, one with iris malformation and optic disc coloboma with a homozygous missense variant, het in parents. Dennis et al. 2012 mouse model with microphthalmia.Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nivelon-Nivelon-Mabille syndrome 600092
Publications
Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.Created: 18 May 2022, 1:55 p.m. | Last Modified: 18 May 2022, 1:55 p.m.
Panel Version: 1.125
Sources: Expert listCreated: 20 Jan 2022, 11:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Publications
Tag Q2_21_rating was removed from gene: HHAT. Tag Q1_22_NHS_review was removed from gene: HHAT.
Source Expert Review Green was added to HHAT. Source NHS GMS was added to HHAT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: hhat has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: HHAT.
gene: HHAT was added gene: HHAT was added to Structural eye disease. Sources: Expert list Q1_22_NHS_review tags were added to gene: HHAT. Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HHAT were set to 33749989; 24784881 Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092 Review for gene: HHAT was set to AMBER