Combined Immunodeficiency
Gene: DIAPH1EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
These individuals also had seizures, cortical blindness and microcephaly so the immunodeficiency was part of a syndromic disorder.Created: 13 Jul 2022, 8:43 a.m. | Last Modified: 13 Jul 2022, 8:43 a.m.
Panel Version: 1.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seizures, cortical blindness, microcephaly syndrome, MIM# 616632
Peter McNaughton (Queensland Children's Hospital)
5 Finnish and 2 Omani patients with B and T cell defects
Sources: LiteratureCreated: 12 Jul 2022, 5:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined Immune deficiency
Publications
- PMID: 33662367
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Seizures, cortical blindness, microcephaly syndrome, MIM# 616632
- Combined Immune deficiency
- OMIM
- 602121
- Clinvar variants
- Variants in DIAPH1
- Penetrance
- None
- Publications
-
- PMID: 33662367
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Combined Immunodeficiency
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Microcephaly
- Mendeliome
- IBMDx study
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: diaph1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DIAPH1 were changed from Combined Immune deficiency to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Combined Immune deficiency
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: diaph1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: DIAPH1 was added gene: DIAPH1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DIAPH1 were set to PMID: 33662367 Phenotypes for gene: DIAPH1 were set to Combined Immune deficiency Review for gene: DIAPH1 was set to GREEN