Cerebellar and Pontocerebellar Hypoplasia
Gene: AUTS2

AUTS2 (AUTS2, activator of transcription and developmental regulator)
EnsemblGeneIds (GRCh38): ENSG00000158321
EnsemblGeneIds (GRCh37): ENSG00000158321
OMIM: 607270, Gene2Phenotype
AUTS2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes
Intellectual developmental disorder, autosomal dominant 26, MIM# 615834

Created: 29 Dec 2021, 9:22 p.m.
Last Modified: 29 Dec 2021, 9:22 p.m.
Panel version: 1.23

Elena Savva (Victorian Clinical Genetics Services)

I don't know

aka KIAA0442

PMID: 17211639 - 5 patients (4 families) with translocation rearrangements resulting in truncated AUTS2. 1/5 patients has a hypoplastic brain stem, 2/5 (both twins) show cerebral atrophy. Remaining 2/5 patients did not have an MRI. All patients were <18 years old.

PMID: 27075013 - describes 13 patients with CNVs in the AUTS2 gene. Report "An MRI was done in eight patients. None had structural brain malformations except for a stable arachnoidal cyst in one."

PMID: 22872102 - describes 4 patients with CNVs in AUTS2. Only 2/4 had an MRI, both regarded as "normal", patients were aged 10 and 3 yo.

PMID: 31474318 - 4 patients with de novo inframe deletions, frameshift and missense variants. Patients are from a cohort with either Dandy-Walker malformations or cerebellar hypoplasia
Created: 19 Oct 2020, 10:07 p.m. | Last Modified: 19 Oct 2020, 10:07 p.m.

Panel Version: 0.150

aka KIAA0442

PMID: 17211639 - 5 patients (4 families) with translocation rearrangements resulting in truncated AUTS2. 1/5 patients has a hypoplastic brain stem, 2/5 (both twins) show cerebral atrophy. Remaining 2/5 patients did not have an MRI. All patients were <18 years old.

PMID: 27075013 - describes 13 patients with CNVs in the AUTS2 gene. Report "An MRI was done in eight patients. None had structural brain malformations except for a stable arachnoidal cyst in one."

PMID: 22872102 - describes 4 patients with CNVs in AUTS2. Only 2/4 had an MRI, both regarded as "normal", patients were aged 10 and 3 yo.

Mixed reports overall.
Created: 15 Apr 2020, 4:58 a.m. | Last Modified: 15 Apr 2020, 4:58 a.m.

Panel Version: 0.19

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 26 615834

Publications

Created: 15 Apr 2020, 4:58 a.m.
Last Modified: 15 Apr 2020, 4:58 a.m.
Panel version: 0.150

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Intellectual developmental disorder, autosomal dominant 26, MIM# 615834

Tags

SV/CNV

OMIM

607270

Clinvar variants

Variants in AUTS2

Penetrance

None

Publications

Panels with this gene