Severe microcephaly
Gene: DOHH
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 2:56 p.m. | Last Modified: 10 Oct 2023, 2:56 p.m.
Panel Version: 4.33
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 29 Sep 2022, 2:53 p.m. | Last Modified: 29 Sep 2022, 2:53 p.m.
Panel Version: 2.319
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35858628 reports six DOHH variants in three unrelated cases of a neurodevelopmental disorder. All of these cases had intellectual disability, microcephaly and hypotonia.
Sources: LiteratureCreated: 29 Sep 2022, 2:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DOHH associated neurodevelopmental disorder
Publications
Phenotypes for gene: DOHH were changed from DOHH associated neurodevelopmental disorder to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
Tag Q4_22_MOI was removed from gene: DOHH. Tag Q4_22_promote_green was removed from gene: DOHH.
Source Expert Review Green was added to DOHH. Source NHS GMS was added to DOHH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_22_rating was removed from gene: DOHH. Tag Q4_22_promote_green tag was added to gene: DOHH.
Gene: dohh has been classified as Amber List (Moderate Evidence).
gene: DOHH was added gene: DOHH was added to Severe microcephaly. Sources: Literature Q4_22_rating, Q4_22_MOI tags were added to gene: DOHH. Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOHH were set to 35858628 Phenotypes for gene: DOHH were set to DOHH associated neurodevelopmental disorder