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  3. HCCS
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Syndromic Retinopathy

Gene: HCCS

Green List (high evidence)
HCCS (holocytochrome c synthase)
EnsemblGeneIds (GRCh38): ENSG00000004961
EnsemblGeneIds (GRCh37): ENSG00000004961
OMIM: 300056, Gene2Phenotype
HCCS is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Complex disorder typically associated with microphthalmia and structural eye abnormalities, however pigmentary retinopathy also reported.
Sources: Expert list
Created: 11 Oct 2020, 3:54 a.m.

Mode of inheritance
Other

Phenotypes
Linear skin defects with multiple congenital anomalies 1, MIM# 309801

Created: 11 Oct 2020, 3:54 a.m.

Panel version: 0.105

History Filter Activity

11 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HCCS was added gene: HCCS was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: HCCS was set to Other Phenotypes for gene: HCCS were set to Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Review for gene: HCCS was set to GREEN