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| Motor Neurone Disease v0.134 | PRPH | Zornitza Stark Marked gene: PRPH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.134 | PRPH | Zornitza Stark Gene: prph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.134 | PRPH | Zornitza Stark Phenotypes for gene: PRPH were changed from to {Amyotrophic lateral sclerosis, susceptibility to}, 105400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.133 | PRPH | Zornitza Stark Publications for gene: PRPH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.132 | PRPH | Zornitza Stark Mode of inheritance for gene: PRPH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.132 | PRPH | Zornitza Stark Mode of inheritance for gene: PRPH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.27 | PRPH | Bryony Thompson Classified gene: PRPH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.27 | PRPH | Bryony Thompson Gene: prph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.26 | PRPH |
Bryony Thompson changed review comment from: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case reported, with some supporting evidence in a mouse model. Sources: Expert list; to: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case (Asp141Tyr) reported that doesn't appear to have more severe disease. The Asp141Tyr missense NFE AF in gnomAD is 0.005730, which is on the high side. There is also some supporting evidence in a mouse model. Sources: Expert list |
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| Motor Neurone Disease v0.26 | PRPH |
Bryony Thompson changed review comment from: ALS susceptibility loci Sources: Expert list; to: Reported in OMIM as an ALS susceptibility loci. Two heterozygous cases and a homozygous case reported, with some supporting evidence in a mouse model. Sources: Expert list |
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| Motor Neurone Disease v0.26 | PRPH | Bryony Thompson edited their review of gene: PRPH: Changed publications: 20363051, 15322088, 15446584 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.0 | PRPH |
Zornitza Stark gene: PRPH was added gene: PRPH was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: PRPH was set to Unknown |
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