Cerebellar hypoplasia
Gene: AUTS2
AUTS2 (AUTS2, activator of transcription and developmental regulator)
EnsemblGeneIds (GRCh38): ENSG00000158321
EnsemblGeneIds (GRCh37): ENSG00000158321
OMIM: 607270, Gene2Phenotype
AUTS2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000158321
EnsemblGeneIds (GRCh37): ENSG00000158321
OMIM: 607270, Gene2Phenotype
AUTS2 is in 5 panels
1 review
Dmitrijs Rots (Children's Clinical University Hospital)
In PMID: 31474318 found in 2/5 patient with DNM AUTS2 variant and cerebellar hypoplasia (see suplements of the paper).
Sources: LiteratureCreated: 26 Jul 2021, 12:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; Cerebellar hypoplasia
Publications
- PMID: 31474318
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- intellectual disability
- Cerebellar hypoplasia
- OMIM
- 607270
- Clinvar variants
- Variants in AUTS2
- Penetrance
- Complete
- Publications
-
- PMID: 31474318
- Panels with this gene
History Filter Activity
26 Jul 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Dmitrijs Rots (Children's Clinical University Hospital)gene: AUTS2 was added gene: AUTS2 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AUTS2 were set to PMID: 31474318 Phenotypes for gene: AUTS2 were set to intellectual disability; Cerebellar hypoplasia Penetrance for gene: AUTS2 were set to Complete Review for gene: AUTS2 was set to AMBER