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| Genomic imprinting v0.147 | STX16 | Sarah Leigh Added comment: Comment on mode of inheritance: STX16 is expressed from both alleles and so is not imprinted. However, maternally inherited STX16 variants have been reported in pseudohypoparathyroidism type 1B, which appear to have a cis disrupting effect on GNAS Exon A/B transcript (PMID: 14561710; 15579741; 15800843; 33320452; 32337648; 35119251). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.146 | GNAS |
Sarah Leigh Added comment: Comment on mode of inheritance: Differential expression of the different GNAS transcripts: • Gs-alpha transcript (α-subunit of G protein) o Not imprinted (non-methylated) - biallelic expression, except: renal proximal tubules, thyroid, gonads, pituitary – maternally expressed o Nearly all tissues - ubiquitously expressed • XLAS o paternally expressed o promoter in DMRs o neuroendocrine tissues and the nervous system o promoter in DMRs • NESP55 o maternally expressed o promoter in DMRs • A/B transcript o paternally expressed o ubiquitously expressed o noncoding transcript o promoter in DMRs • antisense GNAS transcript (GNASAS) o paternally expressed o ubiquitously expressed o noncoding transcript o promoter in DMRs |
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| Genomic imprinting v0.146 | GNAS | Sarah Leigh Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.144 | STX16 |
Sarah Leigh changed review comment from: At least five unrelated cases of Pseudohypoparathyroidism, type IB have been reported with a maternally inherited deletion ranging from 3 - 87.5 kb, encompassing some or all of the exons of STX16. The result effect of these deletions is thought to be the disruption of cis-acting regulators of transcription other genes, by interferring with methylation. Sources: Literature; to: At least five unrelated cases of Pseudohypoparathyroidism, type IB have been reported with a maternally inherited deletion ranging from 3 - 87.5 kb, encompassing some or all of the exons of STX16. The result effect of these deletions is thought to be the disruption of cis-acting control elements of imprinting, which are necessary for establishing and/or maintaining methylation at GNAS exon A/B, including.. Sources: Literature |
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| Genomic imprinting v0.105 | GNAS | Sarah Leigh Added comment: Comment on phenotypes: Pseudohypoparathyroidism Ia, OMIM:103580, Pseudohypoparathyroidism Ib, OMIM:603233 & Pseudohypoparathyroidism Ic, OMIM:612462 are all caused by maternally-inherited GNAS1 variants. Osseous heteroplasia, progressive, OMIM:166350 & Pseudopseudohypoparathyroidism, OMIM:612463 are caused by paternally-inherited GNAS1 variants | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.105 | GNAS | Sarah Leigh Phenotypes for gene: GNAS were changed from Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a; pseudopseudohypoparathyroidism; Affected tissue: kidney, bone, brain to Pseudohypoparathyroidism Ia, OMIM:103580; Pseudohypoparathyroidism Ib, OMIM:603233; Pseudohypoparathyroidism Ic, OMIM:612462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.26 | GNAS | Sarah Leigh changed review comment from: GNAS complex locus includes: NESP55, GNASXL, Exon-1A, GS-alpha listed in supplimentary table (PMID 30794780)HGNC::4392); to: GNAS complex locus includes: NESP55, GNASXL, Exon-1A (STX16), GS-alpha listed in supplimentary table (PMID 30794780)HGNC::4392) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.26 | GNAS-AS1 | Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: GNAS-AS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.26 | GNAS | Sarah Leigh reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.26 | GNAS-AS1 | Sarah Leigh reviewed gene: GNAS-AS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting v0.24 | GNAS-AS1 |
Sarah Leigh gene: GNAS-AS1 was added gene: GNAS-AS1 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: GNAS-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: GNAS-AS1 were set to 30794780; http://igc.otago.ac.nz/home.html |
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| Genomic imprinting v0.24 | GNAS |
Sarah Leigh Source Literature was added to GNAS. Publications for gene GNAS were updated from PMID: 2109828; 1944469; 9506752; 12024005; 12024004; 10980525; 11788646; 15181091; [11406605; 15592469; [15592469; 15800843] to [11406605; 15592469; 12024004; 15800843]; 11788646; 9506752; 30794780; [15592469; 15181091; 1944469; http://igc.otago.ac.nz/home.html; PMID: 2109828; 12024005; 10980525 |
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| Genomic imprinting | GNAS | Ellen McDonagh classified GNAS as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting | GNAS | Ellen McDonagh edited their review of GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting | GNAS | Ellen McDonagh edited their review of GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting | GNAS | Ellen McDonagh edited their review of GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting | GNAS | Ellen McDonagh edited their review of GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic imprinting | GNAS | Ellen McDonagh reviewed GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||