Inflammatory bowel disease
Gene: DKC1EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 16 panels
3 reviews
Krithika Murali (Victorian Clinical Genetics Services)
1 additional family reported with enterocolitis features.Created: 6 Jul 2023, 2:37 a.m. | Last Modified: 6 Jul 2023, 2:37 a.m.
Panel Version: 0.100
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
DKC1-related disorder - MONDO: 0100152
Publications
- PMID: 32554502
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple immunological and haematological abnormalities observed in DKC; rare reports of enteropathy in infants.Created: 24 Mar 2023, 3:19 a.m. | Last Modified: 24 Mar 2023, 3:19 a.m.
Panel Version: 0.93
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita, X-linked, MIM# 305000
Chris Richmond (Genetic Health Queensland)
2 unrelated infants with infant-onset DKC - the most prominent clinical finding was the presence of a severe, chronic, non-infectious enteropathy leading to malabsorption and nutrient deficiencies . Histological abnormalities included inflammation and mucosal apoptosis (identical to gut GVHD) in the esophagus, small bowel, or colon. Phenotypic overlap with IBD. Review with Dr. Peter McNaughton (immunologist QCH).
Sources: Expert ReviewCreated: 23 Mar 2023, 11:55 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dyskeratosis congenita, X-linked, MIM# 305000
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Inflammatory bowel disease
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Krithika Murali (Victorian Clinical Genetics Services)Gene: dkc1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dkc1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita to Dyskeratosis congenita, X-linked, MIM# 305000
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dkc1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Chris Richmond (Genetic Health Queensland)gene: DKC1 was added gene: DKC1 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 21284747 Phenotypes for gene: DKC1 were set to Dyskeratosis congenita Penetrance for gene: DKC1 were set to unknown Review for gene: DKC1 was set to GREEN gene: DKC1 was marked as current diagnostic