Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: ERGIC1

Amber List (moderate evidence)

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

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
Tags
Q3_21_rating
Clinvar variants
Variants in ERGIC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ERGIC1 were set to 28317099; 34037256

13 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ergic1 has been classified as Amber List (Moderate Evidence).

13 Oct 2021, Gel status: 0

Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: ERGIC1. Tag Q3_21_rating tag was added to gene: ERGIC1.

13 Oct 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: ERGIC1.

13 Oct 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ERGIC1 were changed from Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100 to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100

9 Oct 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ERGIC1 was added gene: ERGIC1 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERGIC1 were set to 28317099; 34037256 Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100 Review for gene: ERGIC1 was set to AMBER