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  2. Ataxia and cerebellar anomalies - narrow panel
  3. PITRM1
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Ataxia and cerebellar anomalies - narrow panel

Gene: PITRM1

Green List (high evidence)
PITRM1 (pitrilysin metallopeptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000107959
EnsemblGeneIds (GRCh37): ENSG00000107959
PITRM1 is in 5 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Created: 5 Feb 2023, 5:18 p.m.
Last Modified: 5 Feb 2023, 5:18 p.m.
Panel version: 3.30

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence for PITRM1 to be classified as Green at the next GMS panel update. Three unrelated families including 2 consanguineous Palestinian families each with 2 affected boys (PMID: 29764912) and a consanguineous Norwegian family also with 2 affected sibs (PMID: 26697887). Phenotypes include ataxia although severity is variable. Supported by functional work and mouse model also exhibiting progressive ataxia.
Created: 15 Jun 2021, 3:35 p.m. | Last Modified: 15 Jun 2021, 3:35 p.m.
Panel Version: 2.193
Created: 15 Jun 2021, 3:35 p.m.
Last Modified: 15 Jun 2021, 3:35 p.m.
Panel version: 2.193

Zornitza Stark (Australian Genomics)

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: Expert list
Created: 12 Sep 2020, 6:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia; Intellectual disability

Publications

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

Created: 12 Sep 2020, 6:48 a.m.

Panel version: 2.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405
Tags
gene-checked
Clinvar variants
Variants in PITRM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jun 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PITRM1 were changed from Ataxia; Intellectual disability to Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405

5 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: PITRM1.

5 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to PITRM1. Source NHS GMS was added to PITRM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Nov 2022, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: PITRM1.

15 Jun 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: PITRM1.

15 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pitrm1 has been classified as Amber List (Moderate Evidence).

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PITRM1 was added gene: PITRM1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861 Phenotypes for gene: PITRM1 were set to Ataxia; Intellectual disability Review for gene: PITRM1 was set to GREEN gene: PITRM1 was marked as current diagnostic