Heterotaxy

Gene: ARL2BP

Green List (high evidence)

PMID 38649918: 58-year old male patient with mixed retinal dystrophy, situs inversus, unilateral renal agenesis and asthenozoospermia. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4.

PMID 36507858: Male patient presenting with retinitis pigmentosa (RP), situs inversus totalis, and oligozoospermia. The patient also likely had olfactory dysfunction susceptibility and presented with anosmia. Identified a novel homozygous variant c.22_23delAG (p.S8Lfs*10).

Created: 22 May 2024, 5:51 a.m. | Last Modified: 22 May 2024, 5:51 a.m.

Panel Version: 1.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa with or without situs inversus MIM#615434

Publications

• PMID: 38649918
• 36507858

I don't know

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.
Sources: Literature

Created: 10 May 2022, 11:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa with or without situs inversus MIM#615434

Publications

• PMID: 23849777