Cerebral Palsy
Gene: OPHN1EnsemblGeneIds (GRCh38): ENSG00000079482
EnsemblGeneIds (GRCh37): ENSG00000079482
OMIM: 300127, Gene2Phenotype
OPHN1 is in 11 panels
1 review
Clare van Eyk (University of Adelaide)
1 male with hemizygous variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MRXSBL is associated with generalized hypotonia and delayed psychomotor development from infancy, with some individuals developing ataxia associated with cerebellar hypoplasia.
Sources: LiteratureCreated: 26 Jun 2024, 12:59 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked syndromic, Billuart type, MIM#300486
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, X-linked syndromic, Billuart type, MIM#300486
- OMIM
- 300127
- Clinvar variants
- Variants in OPHN1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ophn1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ophn1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: OPHN1 was added gene: OPHN1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OPHN1 were set to PMID: 38693247 Phenotypes for gene: OPHN1 were set to Intellectual developmental disorder, X-linked syndromic, Billuart type, MIM#300486 Review for gene: OPHN1 was set to RED