Autism
Gene: TRIP12EnsemblGeneIds (GRCh38): ENSG00000153827
EnsemblGeneIds (GRCh37): ENSG00000153827
OMIM: 604506, Gene2Phenotype
TRIP12 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 10 unrelated patients reported with ID with or without autism (PMIDs: 27848077, 28251352).Created: 21 May 2020, 10:41 a.m. | Last Modified: 21 May 2020, 10:41 a.m.
Panel Version: 0.94
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752
- OMIM
- 604506
- Clinvar variants
- Variants in TRIP12
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trip12 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TRIP12 were changed from to Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TRIP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TRIP12 was added gene: TRIP12 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRIP12 was set to Unknown