Arthrogryposis
Gene: ERGIC1

ERGIC1 (endoplasmic reticulum-golgi intermediate compartment 1)
EnsemblGeneIds (GRCh38): ENSG00000113719
EnsemblGeneIds (GRCh37): ENSG00000113719
ERGIC1 is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.

Panel Version: 3.154

Created: 11 Mar 2022, 1:41 p.m.
Last Modified: 11 Mar 2022, 1:41 p.m.
Panel version: 3.154

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by Zornitza Stark. There is sufficient evidence to promote this gene to Green at the next GMS panel update - three unrelated families reported to date with arthrogryposis associated with different variants in this gene (PMID: 28317099; 31230720; 34037256).
Created: 13 Oct 2021, 3:01 p.m. | Last Modified: 13 Oct 2021, 3:01 p.m.

Panel Version: 3.128

Pehlivan et al. 2019 (PMID:31230720) identified the third case of arthrogryposis in a child who harboured a previously unreported homozygous variant (c.782G>A; p.Gly261Asp) in this gene. Parents were heterozygous carriers. Functional studies were not performed.
Created: 13 Oct 2021, 2:58 p.m. | Last Modified: 13 Oct 2021, 2:58 p.m.

Panel Version: 3.127

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100

Publications

31230720

Created: 13 Oct 2021, 2:58 p.m.
Last Modified: 13 Oct 2021, 2:58 p.m.
Panel version: 3.127

Zornitza Stark (Australian Genomics)

I don't know

Reinstein et al. (2018) used WES in a large consanguineous Israeli Arab kindred consisting of 16 patients affected with the neurogenic type of arthrogryposis multiplex congenita. They identified a homozygous missense (V98E) mutation in ERGIC1 gene, which segregated with the disorder in the kindred, and was not found in the ExAC database or in 212 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed. ERGIC1 encodes a cycling membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.

Marconi et al (2021) used genome sequencing in a consanguineous family with 2 affected siblings presenting congenital arthrogryposis and some facial dysmorphism. They identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents.
Sources: Literature
Created: 9 Oct 2021, 8 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100

Publications

Created: 9 Oct 2021, 8 a.m.

Panel version: 3.122

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100

Tags

gene-checked

Clinvar variants

Variants in ERGIC1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

7 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: ERGIC1.

11 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating was removed from gene: ERGIC1.

11 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ERGIC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Oct 2021, Gel status: 2