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Motor Neurone Disease

Gene: PRPH

Amber List (moderate evidence)
PRPH (peripherin)
EnsemblGeneIds (GRCh38): ENSG00000135406
EnsemblGeneIds (GRCh37): ENSG00000135406
OMIM: 170710, Gene2Phenotype
PRPH is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.
Created: 16 Apr 2022, 5:34 a.m. | Last Modified: 16 Apr 2022, 5:34 a.m.
Panel Version: 0.12969

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Amyotrophic lateral sclerosis, susceptibility to}, 105400

Publications

Created: 16 Apr 2022, 5:34 a.m.
Last Modified: 16 Apr 2022, 5:34 a.m.
Panel version: Imported from Mendeliome panel version 0.12969

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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
Created: 16 Jan 2020, 3 a.m. | Last Modified: 31 Mar 2020, 9:12 a.m.
Panel Version: 0.26

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Amyotrophic lateral sclerosis, susceptibility to}, 105400

Publications

Created: 16 Jan 2020, 3 a.m.
Last Modified: 31 Mar 2020, 9:12 a.m.
Panel version: 0.26

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • {Amyotrophic lateral sclerosis, susceptibility to}, 105400
OMIM
170710
Clinvar variants
Variants in PRPH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Apr 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prph has been classified as Amber List (Moderate Evidence).

16 Apr 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRPH were changed from to {Amyotrophic lateral sclerosis, susceptibility to}, 105400

16 Apr 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRPH were set to

16 Apr 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRPH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

16 Apr 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRPH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

31 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prph has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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