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Fetal anomalies

Gene: ASXL3

Green List (high evidence)
ASXL3 (additional sex combs like 3, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000141431
EnsemblGeneIds (GRCh37): ENSG00000141431
OMIM: 615115, Gene2Phenotype
ASXL3 is in 5 panels

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Three unrelated cases with fetal brain abnormalities. One with cerebellar anomalies, one with thin CC. One polyhydramnios, one cerebellar vermis hypoplasia
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bainbridge-Ropers syndrome, MIM#615485

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Arina Puzriakova (Genomics England Curator)

Amber expert reviews support the current Amber rating of ASXL3 on the Fetal anomalies panel (version 1.108) and therefore this will be maintained until further evidence emerges.
Created: 6 Nov 2020, 12:01 p.m. | Last Modified: 6 Nov 2020, 12:01 p.m.
Panel Version: 1.108
Created: 6 Nov 2020, 12:01 p.m.
Last Modified: 6 Nov 2020, 12:01 p.m.
Panel version: 1.108

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: May be fetally relevant but still limited evidence, support keeping as Amber gene for now.

Details of review:
Previously reviewed as Amber as 2 fetal cases in literature: one from PMID: 32565546 with short CC and metopic synostosis, one from PMID: 29316359 with distal arthrogryposis and cerebellar vermian hypoplasia. Now there is one more fetal case reported with arthrogryposis - PMID: 33820833
Created: 11 Aug 2022, 9:27 a.m. | Last Modified: 11 Aug 2022, 9:27 a.m.
Panel Version: 1.900
PMID: 29316359 reported a de novo variant in a fetal case with distal arthrogryposis and cerebellar vermian hypoplasia
Created: 10 Sep 2020, 4:22 p.m. | Last Modified: 10 Sep 2020, 4:22 p.m.
Panel Version: 1.95

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arthrogryposis

Publications

Created: 10 Sep 2020, 4:22 p.m.
Last Modified: 10 Sep 2020, 4:22 p.m.
Panel version: 1.900

Suzanne Drury (Congenica Ltd)

PMID: 32565546 identified de novo variant in fetal case of short corpus callosum and metopic synostosis.
Created: 24 Jun 2020, 12:45 p.m. | Last Modified: 24 Jun 2020, 12:45 p.m.
Panel Version: 1.73
Created: 24 Jun 2020, 12:45 p.m.
Last Modified: 24 Jun 2020, 12:45 p.m.
Panel version: 1.73

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for BAINBRIDGE-ROPERS SYNDROME
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Bainbridge-Ropers syndrome, OMIM:615485
OMIM
615115
Clinvar variants
Variants in ASXL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: ASXL3. Tag Q1_25_ promote_green was removed from gene: ASXL3.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ASXL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: ASXL3.

21 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome, OMIM:615485; Arthrogryposis to Bainbridge-Ropers syndrome, OMIM:615485

21 Feb 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ promote_green tag was added to gene: ASXL3.

20 Feb 2025, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ASXL3. Mode of inheritance for gene ASXL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASXL3 were updated from 29316359; 32565546; 33820833 to 38420660; 33820833; 32565546; 29316359

19 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ASXL3 were changed from BAINBRIDGE-ROPERS SYNDROME to Bainbridge-Ropers syndrome, OMIM:615485; Arthrogryposis

19 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ASXL3 were set to

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ASXL3 was added gene: ASXL3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME