Cerebral vascular malformations
Gene: ATR
There are many reports of individuals diagnosed with Seckel syndrome and having a MoyaMoya-like finding on their brain MRI however no genetic link between ATR and moyamoya has been identified as of yet from a literature search. No variants have been reported in affected individuals with a moyamoya-like brain imaging.
Rated Amber on PanelApp UK due to the correlation between Seckel syndrome and MoyaMoya Disease.Created: 18 Nov 2024, 11:50 p.m. | Last Modified: 18 Nov 2024, 11:50 p.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1 MONDO:0008869
Publications
At least three unrelated families reported.Created: 18 Aug 2021, 10:01 a.m. | Last Modified: 18 Aug 2021, 10:01 a.m.
Panel Version: 0.8876
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1, MIM# 210600
Publications
Gene: atr has been classified as Red List (Low Evidence).
gene: ATR was added gene: ATR was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATR were set to 12640452 Phenotypes for gene: ATR were set to Seckel syndrome 1 210600