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Mitochondrial disease

Gene: PITRM1

Green List (high evidence)

PITRM1 (pitrilysin metallopeptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000107959
EnsemblGeneIds (GRCh37): ENSG00000107959
PITRM1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three families with two unique variants. Mitochondrial dysfunction identified in in vitro functional assays and mouse model. No OMIM phenotype.
Sources: NHS GMS
Created: 22 Mar 2020, 4:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia-30 (SCAR30), MIM#619405
  • intellectual disability
  • cognitive decline
  • psychosis
Clinvar variants
Variants in PITRM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PITRM1 were changed from Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pitrm1 has been classified as Green List (High Evidence).

22 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pitrm1 has been classified as Green List (High Evidence).

22 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PITRM1 was added gene: PITRM1 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PITRM1 were set to 26697887; 29764912 Phenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis