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Fetal anomalies

Gene: ANKLE2

Green List (high evidence)
ANKLE2 (ankyrin repeat and LEM domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000176915
EnsemblGeneIds (GRCh37): ENSG00000176915
OMIM: 616062, Gene2Phenotype
ANKLE2 is in 2 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

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Amber in prev review due to isolated microcephaly not being eligible. PMID 40940024 cannot access full paper but had MRI findings (note fetus compound het for pathogenic and VUS) markedly diminished volume of the cerebral hemispheres with absence of the expected gyration pattern. There is no significant asymmetry between the cerebral hemispheres. The frontal lobes are underdeveloped and smoother than the posterior cerebral hemispheres. The brainstem shows normal morphology but appears slightly small for gestational age. The cerebellum and vermis are small for gestational age. PMID 35871307: 12 individuals 12 with congenital mocrocephaly. Broad range of brain abnormalities including simplified cortical gyral pattern, full or partial callosal agenesis, increased extra?axial spaces, hypomyelination, cerebellar vermis hypoplasia, and enlarged cisterna magna.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 16, primary, autosomal recessive, OMIM:616681

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)

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

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

I don't know

> 9 patients with congenital microcephaly. Amber pending isolated microcephaly eligibility criteria review
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 16, primary, autosomal recessive, OMIM:616681

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Microcephaly 16, primary, autosomal recessive, OMIM:616681
OMIM
616062
Clinvar variants
Variants in ANKLE2
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 Microcephaly 16, primary, autosomal recessive, OMIM:616681 for gene: ANKLE2

9 Mar 2026, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ANKLE2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ANKLE2 was added gene: ANKLE2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANKLE2 were set to 31735666; 25259927; 30214071 Phenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, OMIM:616681