Activity
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| Distal myopathies v6.4 | GIPC1_GGC |
Sarah Leigh 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 Added comment: 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: Literature |
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| Distal myopathies v3.12 | GIPC1 | Sarah Leigh Classified gene: GIPC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.12 | GIPC1 | Sarah Leigh Added comment: Comment on list classification: This gene will remain red as it is only the GIPC1_GGC expansion that has been associated with disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.12 | GIPC1 | Sarah Leigh Gene: gipc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.11 | GIPC1 | Sarah Leigh reviewed gene: GIPC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.11 | GIPC1 | Sarah Leigh Phenotypes for gene: GIPC1 were changed from Oculopharyngodistal myopathy 2, OMIM:618940 to Oculopharyngodistal myopathy 2, OMIM:618940; oculopharyngodistal myopathy 2, MONDO:0030134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.10 | GIPC1 | Sarah Leigh Tag STR tag was added to gene: GIPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.10 | GIPC1 | Sarah Leigh Classified gene: GIPC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.10 | GIPC1 | Sarah Leigh Gene: gipc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.9 | GIPC1 | Sarah Leigh Classified gene: GIPC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.9 | GIPC1 | Sarah Leigh Gene: gipc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.47 | GIPC1 | Arina Puzriakova Phenotypes for gene: GIPC1 were changed from Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940 to Oculopharyngodistal myopathy 2, OMIM:618940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.46 | GIPC1 | Arina Puzriakova Publications for gene: GIPC1 were set to 32413282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.29 | GIPC1 | Zornitza Stark edited their review of gene: GIPC1: Added comment: 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.; Changed publications: 32413282, 33374016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.20 | GIPC1 |
Zornitza Stark gene: GIPC1 was added gene: GIPC1 was added to Distal myopathies. Sources: Literature 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 Mode of pathogenicity for gene: GIPC1 was set to Other Review for gene: GIPC1 was set to GREEN Added comment: 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, and may be best dealt with as an STR disorder here. Sources: Literature |
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