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Leukodystrophy - paediatric

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 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Onset typically in infancy/childhood with intracranial calcifications, leukoencephalopathy, and early-onset retinal changes, associated with extra-neurologic manifestations including early-onset bone fractures, gastrointestinal ectasia, and variable hair, nail, and skin changes, and/or anemia.
Sources: Expert list
Created: 27 Apr 2020, 5:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199

Publications

History Filter Activity

27 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctc1 has been classified as Green List (High Evidence).

27 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctc1 has been classified as Green List (High Evidence).

27 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTC1 was added gene: CTC1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22267198; 22387016 Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Review for gene: CTC1 was set to GREEN