| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.13 | Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.12 |
Zornitza Stark List of related panels changed from to Pseudohypoparathyroidism; HP:0000093 Panel types changed to Victorian Clinical Genetics Services; Rare Disease |
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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 v0.7 | STX16 | Zornitza Stark Marked gene: STX16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.7 | STX16 | Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.7 | STX16 | Zornitza Stark Phenotypes for gene: STX16 were changed from to Pseudohypoparathyroidism type 1b MIM#: 603233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.6 | STX16 | Zornitza Stark Publications for gene: STX16 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.5 | STX16 | Zornitza Stark Mode of inheritance for gene: STX16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 | STX16 | Zornitza Stark Tag SV/CNV tag was added to gene: STX16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.4 | STX16 | Zornitza Stark reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 1456170, 15579741, 15800843, 33320452, 32337648, 33247854, 29959430; Phenotypes: Pseudohypoparathyroidism type 1b MIM#: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 | HDAC4 | Zornitza Stark Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 | HDAC4 | Zornitza Stark Marked gene: HDAC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 | HDAC4 | Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.4 | HDAC4 | Zornitza Stark Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.3 | HDAC4 | Zornitza Stark Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.3 | HDAC4 | Zornitza Stark Publications for gene: HDAC4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.2 | HDAC4 | Zornitza Stark Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.2 | HDAC4 | Zornitza Stark Classified gene: HDAC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.2 | HDAC4 | Zornitza Stark Gene: hdac4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.1 | HDAC4 | Zornitza Stark reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.1 |
Zornitza Stark Panel name changed from Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS to Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy Panel types changed to Victorian Clinical Genetics Services |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | TBCE |
Zornitza Stark gene: TBCE was added gene: TBCE was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBCE was set to Unknown |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | STX16 |
Zornitza Stark gene: STX16 was added gene: STX16 was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STX16 was set to Unknown |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | PTHLH |
Zornitza Stark gene: PTHLH was added gene: PTHLH was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTHLH was set to Unknown |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | PRMT7 |
Zornitza Stark gene: PRMT7 was added gene: PRMT7 was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRMT7 was set to Unknown |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | PRKAR1A |
Zornitza Stark gene: PRKAR1A was added gene: PRKAR1A was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRKAR1A was set to Unknown |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | PDE4D |
Zornitza Stark gene: PDE4D was added gene: PDE4D was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PDE4D was set to Unknown |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | HOXD13 |
Zornitza Stark gene: HOXD13 was added gene: HOXD13 was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HOXD13 was set to Unknown |
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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | HDAC4 |
Zornitza Stark gene: HDAC4 was added gene: HDAC4 was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HDAC4 was set to Unknown |
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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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| Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy v0.0 | Zornitza Stark Added panel Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||