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Intellectual disability

Gene: ERGIC3

Amber List (moderate evidence)

ERGIC3 (ERGIC and golgi 3)
EnsemblGeneIds (GRCh38): ENSG00000125991
EnsemblGeneIds (GRCh37): ENSG00000125991
OMIM: 616971, Gene2Phenotype
ERGIC3 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not asssociated with a phenotype in OMIM or Gene2Phenotype. There is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 14 Jul 2021, 1:45 p.m. | Last Modified: 14 Jul 2021, 1:45 p.m.
Panel Version: 3.1190

Zornitza Stark (Australian Genomics)

I don't know

PMID: 33710394 - two homozygous sibs with mild ID, a novel canonical splice (c.717+1G>A). Absent in gnomAD, no splice studies. Classed as a VUS.

PMID: 31585110 - 1 hom (p.Gln233Argfs*10) in a male 8yo with Growth retardation, Microcephaly, Learning disability, Facial dysmorphism, Abnormal pigmentation.
Sources: Literature
Created: 9 Jul 2021, 5:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability, MONDO:0001071
Tags
watchlist
OMIM
616971
Clinvar variants
Variants in ERGIC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: ERGIC3.

14 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ergic3 has been classified as Amber List (Moderate Evidence).

14 Jul 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ERGIC3 were changed from Intellectual disability to Intellectual disability, MONDO:0001071

9 Jul 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ERGIC3 was added gene: ERGIC3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ERGIC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERGIC3 were set to 33710394; 31585110 Phenotypes for gene: ERGIC3 were set to Intellectual disability Review for gene: ERGIC3 was set to AMBER