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Intellectual disability syndromic and non-syndromic

Gene: FICD

Amber List (moderate evidence)

FICD (FIC domain containing)
EnsemblGeneIds (GRCh38): ENSG00000198855
EnsemblGeneIds (GRCh37): ENSG00000198855
FICD is in 5 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 36704923:
- five individuals (3 families) w/ infancy onset diabetes mellitus (5/5) and severe neurodevelopmental delay (4/5)
- all homozygous for p.R371S
- variant expression in E. coli showed loss of affinity, deregulates BiP-AMP and affects secretion
Sources: Literature
Created: 2 Feb 2023, 3:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, FICD-related (MONDO#0700092)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, FICD-related (MONDO#0700092)
Clinvar variants
Variants in FICD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

2 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

2 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

2 Feb 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

2 Feb 2023, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: FICD was added gene: FICD was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FICD were set to 36704923 Phenotypes for gene: FICD were set to Neurodevelopmental disorder, FICD-related (MONDO#0700092) Review for gene: FICD was set to AMBER