Cerebellar hypoplasia

Gene: AUTS2

No list

AUTS2 (AUTS2, activator of transcription and developmental regulator)
EnsemblGeneIds (GRCh38): ENSG00000158321
EnsemblGeneIds (GRCh37): ENSG00000158321
OMIM: 607270, Gene2Phenotype
AUTS2 is in 6 panels

1 review

Dmitrijs Rots (RadboudUMC)

I don't know

In PMID: 31474318 found in 2/5 patient with DNM AUTS2 variant and cerebellar hypoplasia (see suplements of the paper).
Sources: Literature
Created: 26 Jul 2021, 12:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; Cerebellar hypoplasia

Publications

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
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 (RadboudUMC)

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