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Congenital disorders of glycosylation v5.3 | PIGM | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PIGM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v5.3 | PIGM | Sarah Leigh edited their review of gene: PIGM: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v5.2 | PIGM |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIGM. Source NHS GMS was added to PIGM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Congenital disorders of glycosylation v4.13 | PIGM |
Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: PIGM. Tag Q4_23_promote_green tag was added to gene: PIGM. |
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Congenital disorders of glycosylation v4.13 | PIGM |
Sarah Leigh changed review comment from: A single PIGM variant (NM_145167.2(PIGM):c.-270C>G) has been associated with Glycosylphosphatidylinositol deficiency, (OMIM:610293) and as limited Gen2Phen gene for the same condition. To date, this variant has only been reported in people of Arab or Turkish descent. Microsatellite- and SNP-based haplotypes encompassing PIGM reported in PMID:19168132, suggested that a founder effect in the two families (one Arab and one Turkish) was unlikely. However, subsequent occurrences of the variant in two additional unrelated Arab families (PMID: 31445883) might suggest that this variant is confined within the Middle Eastern populations. Functional studies have shown that this variant reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol anchor (PMID: 16767100).; to: A single PIGM variant (NM_145167.2(PIGM):c.-270C>G)(rs587776528) has been associated with Glycosylphosphatidylinositol deficiency, (OMIM:610293) and as limited Gen2Phen gene for the same condition. To date, this variant has only been reported in people of Arab or Turkish descent. Microsatellite- and SNP-based haplotypes encompassing PIGM reported in PMID:19168132, suggested that a founder effect in the two families (one Arab and one Turkish) was unlikely. However, subsequent occurrences of the variant in two additional unrelated Arab families (PMID: 31445883) might suggest that this variant is confined within the Middle Eastern populations. Functional studies have shown that this variant reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol anchor (PMID: 16767100). |
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Congenital disorders of glycosylation v4.13 | PIGM | Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v4.13 | PIGM | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v4.13 | PIGM | Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v4.12 | PIGM |
Sarah Leigh edited their review of gene: PIGM: Added comment: A single PIGM variant (NM_145167.2(PIGM):c.-270C>G) has been associated with Glycosylphosphatidylinositol deficiency, (OMIM:610293) and as limited Gen2Phen gene for the same condition. To date, this variant has only been reported in people of Arab or Turkish descent. Microsatellite- and SNP-based haplotypes encompassing PIGM reported in PMID:19168132, suggested that a founder effect in the two families (one Arab and one Turkish) was unlikely. However, subsequent occurrences of the variant in two additional unrelated Arab families (PMID: 31445883) might suggest that this variant is confined within the Middle Eastern populations. Functional studies have shown that this variant reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol anchor (PMID: 16767100).; Changed rating: GREEN |
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Congenital disorders of glycosylation v4.12 | PIGM | Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v4.11 | PIGM | Sarah Leigh Added comment: Comment on phenotypes: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency;Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v4.11 | PIGM | Sarah Leigh Phenotypes for gene: PIGM were changed from Glycosylphosphatidylinositol deficiency, 610293; Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency; Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation to Glycosylphosphatidylinositol deficiency, OMIM:610293 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v2.78 | DHDDS | Arina Puzriakova Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861 to Retinitis pigmentosa 59, OMIM:613861; ?Congenital disorder of glycosylation, type 1bb, OMIM:613861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation v1.28 | DHDDS | Sarah Leigh Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59 613861 to Retinitis pigmentosa 59 613861; ?Congenital disorder of glycosylation, type 1bb 613861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | PIGM | Sarah Leigh marked PIGM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | PIGM | Sarah Leigh commented on PIGM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | PIGM | Sarah Leigh classified PIGM as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital disorders of glycosylation | PIGM | Daniel Ungar reviewed PIGM |