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Mackenzie's Mission_Reproductive Carrier Screening

Gene: IMPG2

Red List (low evidence)

IMPG2 (interphotoreceptor matrix proteoglycan 2)
EnsemblGeneIds (GRCh38): ENSG00000081148
EnsemblGeneIds (GRCh37): ENSG00000081148
OMIM: 607056, Gene2Phenotype
IMPG2 is in 5 panels

1 review

Sarah Righetti (University of New South Wales)

Red List (low evidence)

Not suitable for MM screening. Later age of onset, borderline severity. Eye geneticists recommend exclusion
Created: 28 Apr 2021, 5:34 a.m. | Last Modified: 28 Apr 2021, 5:34 a.m.
Panel Version: 0.70

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 56 MIM #613801

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Retinitis pigmentosa 56, MIM #613801
OMIM
607056
Clinvar variants
Variants in IMPG2
Penetrance
None
Panels with this gene

History Filter Activity

7 May 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: impg2 has been classified as Red List (Low Evidence).

7 May 2021, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: IMPG2 were changed from Retinitis pigmentosa 56, 613581 (3) to Retinitis pigmentosa 56, MIM #613801

7 May 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: impg2 has been classified as Red List (Low Evidence).

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IMPG2 was added gene: IMPG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IMPG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581 (3)