Cerebral Palsy
Gene: AUTS2EnsemblGeneIds (GRCh38): ENSG00000158321
EnsemblGeneIds (GRCh37): ENSG00000158321
OMIM: 607270, Gene2Phenotype
AUTS2 is in 8 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional individual with mono-allelic LP frameshift insertion reported in large-scale exome sequencing study (PMID: 38693247). Limited clinical information.Created: 27 May 2024, 3:52 a.m. | Last Modified: 27 May 2024, 3:52 a.m.
Panel Version: 1.193
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Publications
- PMID: 38693247
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple individuals reported with ID/autism, but 'cerebral palsy' was the original clinical diagnosis in some.
Predominantly deletions reported, so may not be tractable by all NGS assays.
Sources: Expert listCreated: 18 Sep 2021, 4:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
- Tags
- OMIM
- 607270
- Clinvar variants
- Variants in AUTS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: auts2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: auts2 has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AUTS2 was added gene: AUTS2 was added to Cerebral Palsy. Sources: Expert list SV/CNV tags were added to gene: AUTS2. Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AUTS2 were set to 23332918; 27075013 Phenotypes for gene: AUTS2 were set to Mental retardation, autosomal dominant 26, MIM# 615834 Review for gene: AUTS2 was set to GREEN