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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.11 | GNAS-AS1 | Zornitza Stark Tag SV/CNV tag was added to gene: GNAS-AS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.11 | GNAS-AS1 | Zornitza Stark Marked gene: GNAS-AS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.11 | GNAS-AS1 | Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.11 | GNAS-AS1 | Zornitza Stark Phenotypes for gene: GNAS-AS1 were changed from to Pseudohypoparathyroidism type 1b MIM no: 603233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.10 | GNAS-AS1 | Zornitza Stark Publications for gene: GNAS-AS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.9 | GNAS-AS1 | Zornitza Stark Mode of inheritance for gene: GNAS-AS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.8 | GNAS-AS1 | Zornitza Stark Classified gene: GNAS-AS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.8 | GNAS-AS1 | Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.7 | GNAS-AS1 | Zornitza Stark reviewed gene: GNAS-AS1: Rating: RED; Mode of pathogenicity: None; Publications: 22378814, 15592469, 29959430, 25005734; Phenotypes: Pseudohypoparathyroidism type 1b MIM no: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 | STX16 |
Zornitza Stark commented on gene: STX16: Multiple reports of a PHP-Ib phenotype. Caused in most cases by a maternally inherited 3-kb, 4.4-kb or larger deletion involving STX16, which is associated with loss of methylation (LOM) at GNAS exon A/B DMR (also referred to as exon 1A or GNAS A/B:TSS-DMR). Of PHP1B cases, 15–20% are familial, with an autosomal dominant mode of inheritance (AD-PHP1B) through the maternal lineage. In this familial form, the methylation defect is usually limited to loss of methylation at GNAS A/B:TSS-DMR, secondary to a 3 kb microdeletion on the maternal allele of cis-acting control elements within STX16. Other maternally inherited deletions and duplications have also been identified in some rare familial cases affecting either an isolated GNAS A/B:TSS-DMR or all four DMRs (Nature review, PMID 29959430) STX16 is not clearly an imprinted gene, but only maternally inherited deletions are associated with this phenotype. Deletions in this gene are thought to disrupt cis-acting regulation of GNAS expression. |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | GNAS-AS1 |
Zornitza Stark gene: GNAS-AS1 was added gene: GNAS-AS1 was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNAS-AS1 was set to Unknown |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | GNAS |
Zornitza Stark gene: GNAS was added gene: GNAS was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNAS was set to Unknown |
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