Holoprosencephaly and septo-optic dysplasia
Gene: SCN7A

SCN7A (sodium voltage-gated channel alpha subunit 7)
EnsemblGeneIds (GRCh38): ENSG00000136546
EnsemblGeneIds (GRCh37): ENSG00000136546
OMIM: 182392, Gene2Phenotype
SCN7A is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation.
Sources: Literature
Created: 11 Jun 2021, 7:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Holoprosencephaly

Publications

32732226

Created: 11 Jun 2021, 7:55 a.m.

Panel version: 1.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Holoprosencephaly

OMIM

182392

Clinvar variants

Variants in SCN7A

Penetrance

None

Publications

32732226

Panels with this gene

History Filter Activity

11 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn7a has been classified as Red List (Low Evidence).

11 Jun 2021, Gel status: 1

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