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Fetal anomalies

Gene: ASXL2

Green List (high evidence)
ASXL2 (additional sex combs like 2, transcriptional regulator)
EnsemblGeneIds (GRCh38): ENSG00000143970
EnsemblGeneIds (GRCh37): ENSG00000143970
OMIM: 612991, Gene2Phenotype
ASXL2 is in 6 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Green List (high evidence)

Green gene on R27, R29, R104. Heterozygous LoF variants in ASXL2 cause Shashi-Pena syndrome is characterised by macrosomia and macrocephaly, seizures, hypotonia, distinctive facial features, dental anomalies, variable DD/ID, behavioural difficulties, feeding difficulties (NG/PEG), skin findings (capillary malformations, deep palmar creases, hypertrichosis), skeletal anomalies (scoliosis/kyphosis, hypermobility, frequent fractures), congenital heart defects (VSD, Ao CoA, PAS, PA valve thickenning), seizures, hypoglycemia (most typically in infancy, may be due to hyperinsulinism), vision abnormalities (retinal lesions, strabismus, amblyopia), conductive hearing loss, recurrent infections and autoimmune cytopenia, sleep apnoea, temperature dysregulation, and increased extraaxial cerebral space, ventriculomegaly, small cerebellum and white matter volume loss on brain MRI. Phenotypic similarities to Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3). At least 16 cases from 14 families have been reported.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Shashi-Pena syndrome, OMIM:617190

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

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
This review was provided by Alison Male from North Thames GLH: Clear post natal phenotype - 2 fetuses with IUGR and one with ACC. Amber need further evidence of prenatal phenotype
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
Shashi-Pena syndrome, OMIM:617190

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Developmental delay, macrocephaly, and dysmorphic features
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
  • Shashi-Pena syndrome, OMIM:617190
OMIM
612991
Clinvar variants
Variants in ASXL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2

9 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ASXL2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ASXL2 were changed from Developmental delay, macrocephaly, and dysmorphic features; Shashi-Pena syndrome, OMIM:617190 to Shashi-Pena syndrome, OMIM:617190

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ASXL2. Mode of inheritance for gene ASXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2 Publications for gene: ASXL2 were updated from to 27693232; 33751773

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ASXL2 was added gene: ASXL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features