Cerebellar and Pontocerebellar Hypoplasia
Gene: SMPD4EnsemblGeneIds (GRCh38): ENSG00000136699
EnsemblGeneIds (GRCh37): ENSG00000136699
OMIM: 610457, Gene2Phenotype
SMPD4 is in 7 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Cerebellar hypoplasia is a feature of the associated OMIM phenotype.
Magini 2019: Reported 23 patients from 12 unrelated families. Cerebellar hypoplasia was one of the main features.
Sources: Expert ReviewCreated: 27 Apr 2020, 1:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622)
- OMIM
- 610457
- Clinvar variants
- Variants in SMPD4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smpd4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smpd4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: SMPD4 was added gene: SMPD4 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to 31495489 Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (MIM#618622) Review for gene: SMPD4 was set to GREEN