Intracerebral calcification disorders

Gene: CTC1

Green List (high evidence)

CTC1 (CST telomere replication complex component 1)
EnsemblGeneIds (GRCh38): ENSG00000178971
EnsemblGeneIds (GRCh37): ENSG00000178971
OMIM: 613129, Gene2Phenotype
CTC1 is in 17 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.

Yanick Crow (University of Manchester)

Green List (high evidence)

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

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

29 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Nov 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199; Coats Plus syndrome

29 Nov 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CTC1 were set to 22267198;22387016

29 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

CTC1 was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen

10 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CTC1 was created by ellenmcdonagh

10 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CTC1 was added to Intracerebral calcification disorderspanel. Sources: Expert list