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| Combined Immunodeficiency v1.134 | DIAPH1 |
Chirag Patel Phenotypes for gene: DIAPH1 were changed from Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Combined Immune deficiency to Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714; Combined Immune deficiency Publications for gene DIAPH1 were changed from 24781755, 26463574, 33662367, 36212620, 39076976, 39120629 to 24781755, 26463574, 33662367, 36212620, 39076976, 39120629 |
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| Combined Immunodeficiency v1.25 | DIAPH1 | Zornitza Stark Marked gene: DIAPH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.25 | DIAPH1 | Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.25 | DIAPH1 | Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Combined Immune deficiency to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Combined Immune deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.24 | DIAPH1 | Zornitza Stark Classified gene: DIAPH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.24 | DIAPH1 | Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.23 | DIAPH1 | Zornitza Stark reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.15 | DIAPH1 |
Peter McNaughton 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 Added comment: 5 Finnish and 2 Omani patients with B and T cell defects Sources: Literature |
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