Arthrogryposis
Gene: SMPD4EnsemblGeneIds (GRCh38): ENSG00000136699
EnsemblGeneIds (GRCh37): ENSG00000136699
OMIM: 610457, Gene2Phenotype
SMPD4 is in 7 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
Expansion of phenotype in known neurodevelopment disease gene
12 unrelated families reported. Arthrogryposis is a feature in 85%
Sources: LiteratureCreated: 20 Apr 2020, 2:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly; congenital arthrogryposis, intellectual disability
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Microcephaly
- congenital arthrogryposis, intellectual disability
- OMIM
- 610457
- Clinvar variants
- Variants in SMPD4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: smpd4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: smpd4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: SMPD4 was added gene: SMPD4 was added to Arthrogryposis. Sources: Literature 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 Microcephaly; congenital arthrogryposis, intellectual disability Review for gene: SMPD4 was set to GREEN gene: SMPD4 was marked as current diagnostic