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  3. AUTS2
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Fetal anomalies

Gene: AUTS2

Red List (low evidence)
AUTS2 (AUTS2, activator of transcription and developmental regulator)
EnsemblGeneIds (GRCh38): ENSG00000158321
EnsemblGeneIds (GRCh37): ENSG00000158321
OMIM: 607270, Gene2Phenotype
AUTS2 is in 5 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

Multiple individuals with exonic deletions (all detected on array) with convincing phenotype, but only one individual with an SNV. No evidence as to why this would present prenatally. Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 26, OMIM:615834

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Comment on list classification: Updated rating from Green to Red following advice from Lyn Chitty (Professor of Genetics and Fetal Medicine, Great Ormond Street), Richard Scott and Anna de Burca (meeting at Great Ormond Street, February 27th 2019). Phenotype is not fetally-relevant, and AUTS2 should be excluded from the panel.
Created: 28 Feb 2019, 8:53 a.m.
DDG2P rating in original PAGE list: Confirmed for SYNDROMIC INTELLECTUAL DISABILITY
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.335

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 26, OMIM:615834
OMIM
607270
Clinvar variants
Variants in AUTS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: AUTS2 were changed from SYNDROMIC INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal dominant 26, OMIM:615834

29 Aug 2024, Gel status: 1

Added New Source, Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to AUTS2. Mode of inheritance for gene AUTS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AUTS2 were updated from to 23332918; 25205402; 31474318

28 Feb 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: auts2 has been classified as Red List (Low Evidence).

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: AUTS2 was added gene: AUTS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY