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  2. Vascular Malformations_Germline
  3. ARL6IP6
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Vascular Malformations_Germline

Gene: ARL6IP6

Red List (low evidence)
ARL6IP6 (ADP ribosylation factor like GTPase 6 interacting protein 6)
EnsemblGeneIds (GRCh38): ENSG00000177917
EnsemblGeneIds (GRCh37): ENSG00000177917
OMIM: 616495, Gene2Phenotype
ARL6IP6 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case reported from a consanguineous family with a homozygous nonsense variant (p.Trp64Ter).
Sources: Other
Created: 29 Sep 2021, 5:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis marmorata telangiectatica congenita

Publications

Created: 29 Sep 2021, 5:14 a.m.

Panel version: 1.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Cutis marmorata telangiectatica congenita
OMIM
616495
Clinvar variants
Variants in ARL6IP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arl6ip6 has been classified as Red List (Low Evidence).

29 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARL6IP6 was added gene: ARL6IP6 was added to Vascular Malformations_Germline. Sources: Other Mode of inheritance for gene: ARL6IP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP6 were set to 31142202 Phenotypes for gene: ARL6IP6 were set to Cutis marmorata telangiectatica congenita Review for gene: ARL6IP6 was set to RED