SCN7A:Ensemblv90

sodium voltage-gated channel alpha subunit 7
OMIM: 182392, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red SCN7A in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.21

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Holoprosencephaly

Red SCN7A in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Holoprosencephaly

Red SCN7A in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Holoprosencephaly

Red SCN7A in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Holoprosencephaly