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  3. AUTS2
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Microcephaly

Gene: AUTS2

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 35802027 - human cerebral organoid model used to illustrate functionality of de novo missense variants.
Describes rat model who lacked a microcephaly presentation.
Proband has profound ID, microcephaly, epilepsy, cerebellar hypoplasia and dysmorphic features.

PMID: 34573342 - microcephaly as a feature in 3/5 patients in an internal cohort. Review of the literature found 65% freq of microcephaly (34/52 patients)
Sources: Literature
Created: 14 Jul 2022, 2:16 a.m.

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

Phenotypes
Intellectual developmental disorder, autosomal dominant 26 MIM#615834

Publications

Created: 14 Jul 2022, 2:16 a.m.

Panel version: 1.131

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 26 MIM#615834
OMIM
607270
Clinvar variants
Variants in AUTS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: auts2 has been classified as Green List (High Evidence).

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: auts2 has been classified as Green List (High Evidence).

14 Jul 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: AUTS2 was added gene: AUTS2 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AUTS2 were set to PMID: 35802027; 34573342 Phenotypes for gene: AUTS2 were set to Intellectual developmental disorder, autosomal dominant 26 MIM#615834 Review for gene: AUTS2 was set to GREEN