Cerebellar and Pontocerebellar Hypoplasia
Gene: SEPSECS

SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase)
EnsemblGeneIds (GRCh38): ENSG00000109618
EnsemblGeneIds (GRCh37): ENSG00000109618
OMIM: 613009, Gene2Phenotype
SEPSECS is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures. At least 5 unrelated families reported.
Created: 14 Feb 2021, 7:10 a.m. | Last Modified: 14 Feb 2021, 7:10 a.m.

Panel Version: 0.198

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia type 2D, MIM# 613811

Publications

Created: 14 Feb 2021, 7:10 a.m.
Last Modified: 14 Feb 2021, 7:10 a.m.
Panel version: 0.198

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Pontocerebellar hypoplasia type 2D, MIM# 613811

OMIM

613009

Clinvar variants

Variants in SEPSECS

Penetrance

None

Publications

Panels with this gene