Intracerebral calcification disorders
Gene: CTC1Comment on list classification: Expert review green. This is a green gene on the Intellectual disability gene panel (version 1.14). More than 6 cases/family reports in OMIM for Cerebroretinal microangiopathy with calcifications and cysts, and is a confirmed DD gene forthis disorder.Created: 29 Nov 2016, 12:59 p.m.
Highly stereotyped clinical and neuroradiological phenotype where the presence, and pattern, of intracranial calcification is important diagnostically.Created: 11 Feb 2016, 7:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intracerebral calcification, white matter disease and intracerebral cysts. Sometimes with Coats disease, bone fractures and GI bleeding
Publications
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199; Coats Plus syndrome
Publications for CTC1 were set to 22267198;22387016
This gene has been classified as Red List (Low Evidence).
CTC1 was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
CTC1 was created by ellenmcdonagh
CTC1 was added to Intracerebral calcification disorderspanel. Sources: Expert list