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Mendeliome

Gene: GIPC1

No list

GIPC1 (GIPC PDZ domain containing family member 1)
EnsemblGeneIds (GRCh38): ENSG00000123159
EnsemblGeneIds (GRCh37): ENSG00000123159
OMIM: 605072, Gene2Phenotype
GIPC1 is in 3 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Added to panel as an STR under OPDM2
Created: 31 Aug 2021, 2:03 a.m. | Last Modified: 31 Aug 2021, 2:03 a.m.
Panel Version: 0.8989

Dean Phelan (Victorian Clinical Genetics Services)

I don't know

PMID: 33374016 - a Chinese cohort of 41 patients with the clinical diagnosis of oculopharyngodistal myopathy (21 cases from seven families and 20 sporadic cases). Overall, the repeat expansion in GIPC1 was identified in 51.9% independent pedigrees (4/7 families and 10/20 sporadic cases). The number of CGG repeats was <30 in controls but >60 in affected individuals. There was a slight correlation between repeat size and the age at onset. Both repeat expansion and retraction were observed during transmission but somatic instability was not evident.
Created: 12 Apr 2021, 5:48 a.m. | Last Modified: 12 Apr 2021, 5:48 a.m.
Panel Version: 0.7124

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculopharyngodistal myopathy 2 (MIM#618940)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

19 families reported with heterozygous trinucleotide repeat expansion in the 5-prime untranslated region and onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. Note this is unlikely to be tractable currently by most NGS assays.
Sources: Literature
Created: 16 Jul 2020, 11:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940
Tags
5'UTR STR
OMIM
605072
Clinvar variants
Variants in GIPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Aug 2021, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gipc1 has been removed from the panel.

12 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: gipc1 has been classified as Amber List (Moderate Evidence).

16 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gipc1 has been classified as Amber List (Moderate Evidence).

16 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gipc1 has been classified as Amber List (Moderate Evidence).

16 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GIPC1 was added gene: GIPC1 was added to Mendeliome. Sources: Literature 5'UTR, STR tags were added to gene: GIPC1. Mode of inheritance for gene: GIPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GIPC1 were set to 32413282 Phenotypes for gene: GIPC1 were set to Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940 Review for gene: GIPC1 was set to AMBER