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Fetal anomalies

Gene: ARL2BP

Green List (high evidence)
ARL2BP (ADP ribosylation factor like GTPase 2 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000102931
EnsemblGeneIds (GRCh37): ENSG00000102931
OMIM: 615407, Gene2Phenotype
ARL2BP is in 3 panels

3 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 set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Vicki Harrison (Wessex Clinical Genetics Service)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. 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 & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in laterality disorders and isomerism, and retinal disorders. Ciliary microtube structure. Asghar et al. 4 people from 1 consanguineous family (2 branches) with RP, situs inverses, sinusitis. Placidi et al. One patient with situs inversus, RP, unilateral renal agenesis and microcysts, azoospermia. Zhu et al. Single chinese patient with RP, situs inversus totalis and oligospermia, anosmia. Davidson et al. One family of 3 sibs with RP, two had situs inversus. Another single patient with RP and PCD disgnosis. Mouse and functional data to support ciliary function.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Situs Inversus

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 82 with or without situs inversus, OMIM:615434
  • Situs Inversus
OMIM
615407
Clinvar variants
Variants in ARL2BP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: ARL2BP. Tag Q3_25_NHS_review was removed from gene: ARL2BP.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to ARL2BP. Source NHS GMS was added to ARL2BP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: ARL2BP. Tag Q3_25_NHS_review tag was added to gene: ARL2BP.

5 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ARL2BP were changed from Situs Inversus to Retinitis pigmentosa 82 with or without situs inversus, OMIM:615434; Situs Inversus

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: ARL2BP was added gene: ARL2BP was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL2BP were set to 27790702; 36507858; 23849777; 38649918; 40384762 Phenotypes for gene: ARL2BP were set to Situs Inversus