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| Mendeliome v1.4747 | SPRY4 | Lucy Spencer edited their review of gene: SPRY4: Added comment: PMID: 28539120 identified Cys170Ser de novo in a proband with a neurodevelopmental condition. This individual also had 2 variants in AP4E1 (green and biallelic on the ID panel) one of which was a canonical splice. RED for this association; Changed rating: RED; Changed publications: 28539120; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SPRY4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4034 | AP4E1 | Zornitza Stark Marked gene: AP4E1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4034 | AP4E1 | Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4034 | AP4E1 | Zornitza Stark Phenotypes for gene: AP4E1 were changed from to Spastic paraplegia 51, autosomal recessive, MIM# 613744 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4033 | AP4E1 | Zornitza Stark Publications for gene: AP4E1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4032 | AP4E1 | Zornitza Stark Mode of inheritance for gene: AP4E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4031 | AP4E1 | Zornitza Stark reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20972249, 21620353, 21937992; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | AP4E1 |
Zornitza Stark gene: AP4E1 was added gene: AP4E1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AP4E1 was set to Unknown |
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