Cerebral Palsy
Gene: PIDD1EnsemblGeneIds (GRCh38): ENSG00000177595
EnsemblGeneIds (GRCh37): ENSG00000177595
OMIM: 605247, Gene2Phenotype
PIDD1 is in 6 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with biallelic LOF variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. PIDD1 is associated with an intellectual developmental disorder with variant lissencephaly.
Sources: LiteratureCreated: 20 Jun 2024, 12:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM#619827
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM#619827
- OMIM
- 605247
- Clinvar variants
- Variants in PIDD1
- 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: pidd1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pidd1 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: PIDD1 was added gene: PIDD1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIDD1 were set to PMID: 38693247 Phenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM#619827 Review for gene: PIDD1 was set to RED