Cerebral Palsy
Gene: SETBP1EnsemblGeneIds (GRCh38): ENSG00000152217
EnsemblGeneIds (GRCh37): ENSG00000152217
OMIM: 611060, Gene2Phenotype
SETBP1 is in 10 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic stopgain variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: LiteratureCreated: 27 May 2024, 1:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 29, MIM#616078; Schinzel-Giedion midface retraction syndrome, MIM#269150
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 29, MIM#616078
- Schinzel-Giedion midface retraction syndrome, MIM#269150
- OMIM
- 611060
- Clinvar variants
- Variants in SETBP1
- 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: setbp1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: setbp1 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: SETBP1 was added gene: SETBP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETBP1 were set to PMID: 38693247 Phenotypes for gene: SETBP1 were set to Intellectual developmental disorder, autosomal dominant 29, MIM#616078; Schinzel-Giedion midface retraction syndrome, MIM#269150 Review for gene: SETBP1 was set to RED