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| BabyScreen+ newborn screening v0.873 | DIAPH1 | Zornitza Stark Marked gene: DIAPH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.873 | DIAPH1 | Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.873 | DIAPH1 | Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 to Seizures, cortical blindness, microcephaly syndrome, MIM# 616632; Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.872 | DIAPH1 | Zornitza Stark Mode of inheritance for gene: DIAPH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.871 | DIAPH1 | Zornitza Stark Classified gene: DIAPH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.871 | DIAPH1 | Zornitza Stark Gene: diaph1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.870 | DIAPH1 | Zornitza Stark reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, cortical blindness, microcephaly syndrome, MIM# 616632, Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | DIAPH1 |
Zornitza Stark gene: DIAPH1 was added gene: DIAPH1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 |
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