Distal myopathies
STR: GIPC1_GGC
Chromosome: 19
GRCh38 Position: 14496041-14496074
Repeated Sequence: GGC
Normal Number of Repeats: < 32
Pathogenic Number of Repeats: = or > 73
GIPC1 (GIPC PDZ domain containing family member 1)
EnsemblGeneIds (GRCh38): ENSG00000123159
EnsemblGeneIds (GRCh37): ENSG00000123159
OMIM: 605072, Gene2Phenotype
GIPC1 is in 0 panels
GRCh38 Position: 14496041-14496074
Repeated Sequence: GGC
Normal Number of Repeats: < 32
Pathogenic Number of Repeats: = or > 73
GIPC1 (GIPC PDZ domain containing family member 1)
EnsemblGeneIds (GRCh38): ENSG00000123159
EnsemblGeneIds (GRCh37): ENSG00000123159
OMIM: 605072, Gene2Phenotype
GIPC1 is in 0 panels
1 review
Sarah Leigh (Genomics England Curator)
GIPC1 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence.
GIPC1_GGC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3
GIPC1_GGC is on https://stripy.org/database
GIPC1_GGC is on DRAGON 4.02.
The coordinates and pathogenic ranges of the sequence repeats were obtained from
https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r3 and were the same on https://stripy.org/database and DRAGON 4.02
There is enough evidence for this STR to be green on this panel.
This STR has not been approved by NHS STR working group and is not NGS Not Validated
Sources: LiteratureCreated: 25 Mar 2025, 4:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Oculopharyngodistal myopathy 2, OMIM:618940
Publications
Details
- Name
- GIPC1_GGC
- Chromosome
- 19
- GRCh38 Coordinates
- 14496041-14496074
- Repeated Sequence
- GGC
- Normal Number of Repeats: <
- 32
- Pathogenic Number of Repeats: = or >
- 73
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Oculopharyngodistal myopathy 2, OMIM:618940
- Tags
- OMIM
- 605072
- Clinvar variants
- Variants in GIPC1
- Penetrance
- None
- Publications
History Filter Activity
25 Mar 2025, Gel status: 1
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)STR: GIPC1_GGC was added STR: GIPC1_GGC was added to Distal myopathies. Sources: Literature STR, NGS Not Validated tags were added to STR: GIPC1_GGC. Mode of inheritance for STR: GIPC1_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: GIPC1_GGC were set to 32413282; 33374016 Phenotypes for STR: GIPC1_GGC were set to Oculopharyngodistal myopathy 2, OMIM:618940 Review for STR: GIPC1_GGC was set to GREEN