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Fetal anomalies

Gene: ANKRD17

Amber List (moderate evidence)
ANKRD17 (ankyrin repeat domain 17)
EnsemblGeneIds (GRCh38): ENSG00000132466
EnsemblGeneIds (GRCh37): ENSG00000132466
OMIM: 615929, Gene2Phenotype
ANKRD17 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

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: 6.148

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Reviewed Aug 2024 Amber; PMID: 40604385 fetus with multiple congenital anomalies (small cerebellum, widened interocular distance, growth retardation, right airway obstruction, single umbilical artery, tricuspid regurgitation), where genetic analysis revealed a microdeletion at 4q13.3 truncating the ANKRD17 gene (includes 3 other genes). Not sure this adds anything substantial.
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
Chopra-Amiel-Gordon syndrome, OMIM:619504

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

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

Postnatal growth retardation, ID, single report of structural anomalies - CLP, renal agenesis, no antenatal reports. Green in ID panel only. Amber.
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
multiple congenital malformations; Chopra-Amiel-Gordon syndrome, OMIM:619504

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • multiple congenital malformations
  • Chopra-Amiel-Gordon syndrome, OMIM:619504
OMIM
615929
Clinvar variants
Variants in ANKRD17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Chopra-Amiel-Gordon syndrome, OMIM:619504 for gene: ANKRD17

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ANKRD17 was added gene: ANKRD17 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD17 were set to 33909992 Phenotypes for gene: ANKRD17 were set to multiple congenital malformations; Chopra-Amiel-Gordon syndrome, OMIM:619504