BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: HCCS

HCCS (holocytochrome c synthase)
EnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 17 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Microphthalmia, syndromic 7, 309801

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:30 p.m.

Panel version: 0.2

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

BRIDGE

Phenotypes

Microphthalmia, syndromic 7, 309801

OMIM

300056

Clinvar variants

Variants in HCCS

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HCCS was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source