Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DIAPH1
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
Sources: Expert Review, LiteratureCreated: 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
Gene: diaph1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DIAPH1 were changed from microcephaly; epilepsy; cortical blindness; poor lymphocyte activation and proliferation, defective B-cell maturation, and lack of naive T cells. to Seizures, cortical blindness, microcephaly syndrome, OMIM:616632
Publications for gene: DIAPH1 were set to PMID: 35748970; PMID: 33662367
Tag Q3_23_promote_green tag was added to gene: DIAPH1.
gene: DIAPH1 was added gene: DIAPH1 was added to Primary immunodeficiency. Sources: Expert Review,Literature Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DIAPH1 were set to PMID: 35748970; PMID: 33662367 Phenotypes for gene: DIAPH1 were set to microcephaly; epilepsy; cortical blindness; poor lymphocyte activation and proliferation, defective B-cell maturation, and lack of naive T cells. Review for gene: DIAPH1 was set to GREEN