Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: DIAPH1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating at the next major update.

Created: 30 Aug 2023, 4:56 p.m. | Last Modified: 30 Aug 2023, 4:56 p.m.

Panel Version: 4.35

Five Finnish and 2 Omani patients identified with homozygous DIAPH1 splice-site/ frameshift variants and reported with SCBMS (MIM #616632) also presented with infection susceptibility due to defective lymphocyte maturation and three patients developed B-cell lymphoma (PMID:33662367).

Created: 30 Aug 2023, 4:55 p.m. | Last Modified: 30 Aug 2023, 4:55 p.m.

Panel Version: 4.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seizures, cortical blindness, microcephaly syndrome, OMIM:616632

Publications

• 33662367

Green List (high evidence)

Sources: Expert Review, Literature

Created: 29 Nov 2022, 9:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly; epilepsy; cortical blindness; poor lymphocyte activation and proliferation, defective B-cell maturation, and lack of naive T cells.

Publications

• PMID: 35748970
• PMID: 33662367