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| Fetal anomalies v0.3834 | MPZ | Zornitza Stark Marked gene: MPZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3834 | MPZ | Zornitza Stark Gene: mpz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3834 | MPZ | Zornitza Stark Phenotypes for gene: MPZ were changed from Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 2I 607677; Charcot-Marie-Tooth disease, type 1B 118200; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, type 2J 607736; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Neuropathy, congenital hypomyelinating 605253 to Hypomyelinating neuropathy, congenital, 2, MIM# 618184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3833 | MPZ | Zornitza Stark Mode of inheritance for gene: MPZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3832 | MPZ | Zornitza Stark Classified gene: MPZ as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3832 | MPZ | Zornitza Stark Gene: mpz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3831 | MPZ | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3831 | MPZ |
Zornitza Stark edited their review of gene: MPZ: Added comment: Variants in this gene are associated with various types of neuropathy, most with post-natal onset. However, at the severe end of the spectrum can present antenatally with decreased fetal movements and arthrogryposis.; Changed rating: GREEN; Changed phenotypes: Hypomyelinating neuropathy, congenital, 2, MIM# 618184; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Fetal anomalies v0.3831 | MPZ | Zornitza Stark reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MPZ |
Zornitza Stark gene: MPZ was added gene: MPZ was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MPZ were set to Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 2I 607677; Charcot-Marie-Tooth disease, type 1B 118200; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, type 2J 607736; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Neuropathy, congenital hypomyelinating 605253 |
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