Cerebral vascular malformations
Gene: SAMHD1
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 6:59 p.m. | Last Modified: 29 Nov 2019, 6:59 p.m.
Panel Version: 1.67
Comment on list classification: Expert list and mutations in at least six familiesCreated: 14 Dec 2016, 2:51 p.m.
Mutations reported in many relatives within one consanguineous family and identified in five further individuals with Moyamoya like phenotype or cerebral anuerysmsCreated: 14 Dec 2016, 2:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Moyamoya
Publications
Phenotypes for gene: SAMHD1 were changed from Moyamoya disease to Moyamoya disease, MONDO:0016820
Source Yorkshire and North East GLH was added to SAMHD1.
Source NHS GMS was added to SAMHD1.
Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Publications for gene: SAMHD1 were set to 21402907, 20653736
Publications for SAMHD1 were set to 21402907, 20653736
Mode of inheritance for SAMHD1 was changed to BIALLELIC, autosomal or pseudoautosomal
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
SAMHD1 was added to Cerebrovascular disorderspanel. Sources: Expert list
SAMHD1 was created by ellenmcdonagh