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  2. Monogenic Diabetes
  3. ONECUT1
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Monogenic Diabetes

Gene: ONECUT1

Green List (high evidence)
ONECUT1 (one cut homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000169856
EnsemblGeneIds (GRCh37): ENSG00000169856
OMIM: 604164, Gene2Phenotype
ONECUT1 is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 unrelated neonatal diabetes cases with homozygous variants & supporting iPSC/mouse models
PMID: 37639628 - UK biobank study of ONECUT1 variants in neonatal diabetes mellitus (NDM), MODY, and type 2 diabetes. Identified a case with syndromic NDM with a homozygous frameshift (p.Met289Argfs*8). Rare heterozygous variants were not enriched in individuals with suspected MODY (n=484). Heterozygous null variants were significantly associated with type 2 diabetes (p=0.006) as a potential susceptibility gene.

PMID: 34663987 - 2 consanguineous families with homozygous variants (Glu231Ter or Glu231Asp) in cases with syndromic ND. Directed differentiation of human pluripotent stem cells revealed that loss of ONECUT1 impairs pancreatic progenitor formation.

PMID: 10825208 - Hnf6 (old gene name) null mice have diabetes
Created: 15 Feb 2024, 8:21 a.m. | Last Modified: 15 Feb 2024, 8:21 a.m.
Panel Version: 0.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neonatal diabetes mellitus MONDO:0016391

Publications

Created: 15 Feb 2024, 8:21 a.m.
Last Modified: 15 Feb 2024, 8:21 a.m.
Panel version: 0.43

Teresa Zhao (Victorian Clinical Genetics Services)

I don't know

Two homozygous ONECUT1 variants (p.E231* and p.E231D) identified in two unrelated patients, respectively, with intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes.
Sources: Literature
Created: 21 Dec 2022, 4:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Syndromic diabetes

Publications

Created: 21 Dec 2022, 4:52 a.m.

Panel version: 0.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Syndromic diabetes
  • Neonatal diabetes mellitus MONDO:0016391
OMIM
604164
Clinvar variants
Variants in ONECUT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: onecut1 has been classified as Green List (High Evidence).

15 Feb 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ONECUT1 were changed from Syndromic diabetes to Syndromic diabetes; Neonatal diabetes mellitus MONDO:0016391

15 Feb 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ONECUT1 were set to PMID: 34663987

15 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: onecut1 has been classified as Green List (High Evidence).

21 Dec 2022, Gel status: 0

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

Teresa Zhao (Victorian Clinical Genetics Services)

gene: ONECUT1 was added gene: ONECUT1 was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: ONECUT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ONECUT1 were set to PMID: 34663987 Phenotypes for gene: ONECUT1 were set to Syndromic diabetes Review for gene: ONECUT1 was set to AMBER