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Mendeliome

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 23849777 - Two families with retinitis pigmentosa and situs inversus, with a homozygous missense or canonical splice variant. Missense variant shown to affect ARL2 binding, RT-PCR of patient blood proved the splice variant to result in multiple transcripts but all resulting in a fs and PTC.

PMID: 27790702 - two siblings with rod-cone dystrophy, no situs inversus with a homozygous canonical splice variant. RT-PCR of patient blood showed exon 3 skipping and a fs -> PTC.

PMID: 29718757 - K/O mouse shows early and progressive reduction in photoresponses, disorganization of the photoreceptor OS, with vertically aligned disks and shortened axonemes.
Created: 10 May 2022, 6:24 a.m. | Last Modified: 10 May 2022, 6:24 a.m.
Panel Version: 0.14034

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa with or without situs inversus MIM#615434

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa with or without situs inversus MIM#615434
OMIM
615407
Clinvar variants
Variants in ARL2BP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: ARL2BP were set to PMID: 23849777; 27790702; 29718757

10 May 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: ARL2BP were set to

10 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: arl2bp has been classified as Green List (High Evidence).

10 May 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ARL2BP were changed from to Retinitis pigmentosa with or without situs inversus MIM#615434

10 May 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: ARL2BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARL2BP was added gene: ARL2BP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARL2BP was set to Unknown