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Mendeliome

Gene: IMMP2L

Red List (low evidence)

IMMP2L (inner mitochondrial membrane peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000184903
EnsemblGeneIds (GRCh37): ENSG00000184903
OMIM: 605977, Gene2Phenotype
IMMP2L is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Some reports associating deletions with autism, also some conflicting evidence reporting no association in large cohorts.
Created: 21 Jan 2020, 10:23 p.m. | Last Modified: 21 Jan 2020, 10:23 p.m.
Panel Version: 0.889

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autism

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Autism
OMIM
605977
Clinvar variants
Variants in IMMP2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: immp2l has been classified as Red List (Low Evidence).

21 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IMMP2L were changed from to Autism

21 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IMMP2L were set to

21 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: immp2l has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IMMP2L was added gene: IMMP2L was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IMMP2L was set to Unknown