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| Mendeliome v1.4222 | SPART | Zornitza Stark Marked gene: SPART as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4222 | SPART | Zornitza Stark Gene: spart has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4222 | Zornitza Stark Copied gene SPART from panel Hereditary Spastic Paraplegia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4222 | SPART |
Zornitza Stark gene: SPART was added gene: SPART was added to Mendeliome. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPART were set to 12134148; 20437587; 26003402; 27112432; 31535723; 31535723; 28875386; 28679690 Phenotypes for gene: SPART were set to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156 |
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| Mendeliome v0.14597 | GOT1 | Zornitza Stark Phenotypes for gene: GOT1 were changed from to Aspartate aminotransferase, serum level of, QTL1, MIM# 614419 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14595 | GOT1 | Zornitza Stark reviewed gene: GOT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartate aminotransferase, serum level of, QTL1, MIM# 614419; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11318 | NAT8L | Zornitza Stark Phenotypes for gene: NAT8L were changed from to N-acetylaspartate deficiency - MIM#614063 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11314 | NAT8L | Zornitza Stark reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11267 | NAT8L | Krithika Murali reviewed gene: NAT8L: Rating: AMBER; Mode of pathogenicity: None; Publications: 11310630, 19807691, 32275776; Phenotypes: ?N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10308 | AGA | Zornitza Stark changed review comment from: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. Multiple families and mouse model.; to: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive ID. Multiple families and mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7035 | AGA | Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM# 208400; MONDO:0008830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7032 | AGA | Zornitza Stark edited their review of gene: AGA: Added comment: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. Multiple families and mouse model.; Changed publications: 1703489, 1904874, 8064811, 8946839; Changed phenotypes: Aspartylglucosaminuria, MIM# 208400, MONDO:0008830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||