Monogenic Diabetes
Gene: FICD
FICD (FIC domain containing)
EnsemblGeneIds (GRCh38): ENSG00000198855
EnsemblGeneIds (GRCh37): ENSG00000198855
FICD is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000198855
EnsemblGeneIds (GRCh37): ENSG00000198855
FICD is in 5 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
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
PMID: 36136088:
- 1/5 with diabetes mellitus, affect sibling has no diabetes
Sources: LiteratureCreated: 2 Feb 2023, 3:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Monogenic diabetes, MONDO:0015967, FICD-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Monogenic diabetes, MONDO:0015967, FICD-related
- 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: 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 Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FICD were set to 36704923; 36136088 Phenotypes for gene: FICD were set to Monogenic diabetes, MONDO:0015967, FICD-related Review for gene: FICD was set to AMBER