Anophthalmia_Microphthalmia_Coloboma
Gene: HCCS

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)

The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder characterised by unilateral or bilateral microphthalmia and linear skin defects--which are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas--in affected females and in utero lethality for males.

More than 10 unrelated individuals reported. Deletions common.
Created: 28 Dec 2020, 9:06 p.m. | Last Modified: 28 Dec 2020, 9:06 p.m.

Panel Version: 0.185

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

Publications

Created: 28 Dec 2020, 9:06 p.m.
Last Modified: 28 Dec 2020, 9:06 p.m.
Panel version: 0.185

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

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

Tags

SV/CNV

OMIM

300056

Clinvar variants

Variants in HCCS

Penetrance

None

Publications

Panels with this gene