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  3. PITRM1
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Ataxia - paediatric

Gene: PITRM1

Green List (high evidence)
PITRM1 (pitrilysin metallopeptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000107959
EnsemblGeneIds (GRCh37): ENSG00000107959
PITRM1 is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three families with two unique variants and in vitro functional assays. Cases and mouse model have spinocerebellar ataxia as a prominent feature of the phenotype. No OMIM phenotype.
Sources: Literature
Created: 22 Mar 2020, 4:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 22 Mar 2020, 4:07 a.m.

Panel version: 0.50

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Created: 12 Feb 2020, 9:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Feb 2020, 9:41 a.m.

Panel version: 0.284

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
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

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: 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 Ataxia - paediatric. Sources: Literature 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 Review for gene: PITRM1 was set to GREEN