| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Multi locus imprinting disorders v1.3 | Achchuthan Shanmugasundram Panel version 1.2 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.2 | Catherine Snow List of related panels changed from R417 to R417.2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.1 |
Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off Panel version 1.0 has been signed off on 2022-11-30 |
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| Multi locus imprinting disorders v1.0 | Catherine Snow promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.14 | NLRP5 | Arina Puzriakova Tag gene-checked tag was added to gene: NLRP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.14 | NLRP2 | Arina Puzriakova Tag gene-checked tag was added to gene: NLRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.14 | Eleanor Williams Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.13 | Sarah Leigh List of related panels changed from to R417 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.12 | PLAGL1 | Sarah Leigh Classified gene: PLAGL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.12 | PLAGL1 | Sarah Leigh Added comment: Comment on list classification: This gene has been demoted to Amber as it is not appropriate for the NHS clinical indication R417 Multi locus imprinting disorders (https://www.england.nhs.uk/publication/national-genomic-test-directories). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.12 | PLAGL1 | Sarah Leigh Gene: plagl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.11 | GRB10 | Sarah Leigh Classified gene: GRB10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.11 | GRB10 | Sarah Leigh Added comment: Comment on list classification: This gene has been demoted to Amber as it is not appropriate for the NHS clinical indication R417 Multi locus imprinting disorders (https://www.england.nhs.uk/publication/national-genomic-test-directories). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.11 | GRB10 | Sarah Leigh Gene: grb10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.10 | KHDC3L | Sarah Leigh Entity copied from Genomic imprinting v0.138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.10 | KHDC3L |
Sarah Leigh gene: KHDC3L was added gene: KHDC3L was added to Multi locus imprinting disorders. Sources: Imprinting GeCIP Subdomain,Expert Review Green Mode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KHDC3L were set to 21885028; 23232697; 31847873; 31201414 Phenotypes for gene: KHDC3L were set to Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671 Penetrance for gene: KHDC3L were set to Complete |
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| Multi locus imprinting disorders v0.9 | PADI6 | Sarah Leigh Entity copied from Genomic imprinting v0.138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.9 | PADI6 |
Sarah Leigh gene: PADI6 was added gene: PADI6 was added to Multi locus imprinting disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: PADI6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PADI6 were set to 32928291; 33221824; 27545678 Phenotypes for gene: PADI6 were set to Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance |
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| Multi locus imprinting disorders v0.8 | NLRP7 | Sarah Leigh Entity copied from Genomic imprinting v0.138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.8 | NLRP7 |
Sarah Leigh gene: NLRP7 was added gene: NLRP7 was added to Multi locus imprinting disorders. Sources: Imprinting GeCIP Subdomain,Expert Review Green Mode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP7 were set to 16462743; 19246479; 31201414; 29574422; 28916717 Phenotypes for gene: NLRP7 were set to Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life); Multi Locus Imprinting Disturbance; hydatidiform mole, recurrent, 1 MONDO:0009273 Penetrance for gene: NLRP7 were set to Complete |
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| Multi locus imprinting disorders v0.7 | NLRP5 | Sarah Leigh Entity copied from Genomic imprinting v0.138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.7 | NLRP5 |
Sarah Leigh gene: NLRP5 was added gene: NLRP5 was added to Multi locus imprinting disorders. Sources: Imprinting GeCIP Subdomain,Expert Review Green Mode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP5 were set to 26323243; 31201414; 31829238 Phenotypes for gene: NLRP5 were set to Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all Penetrance for gene: NLRP5 were set to Complete |
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| Multi locus imprinting disorders v0.6 | NLRP2 | Sarah Leigh Entity copied from Genomic imprinting v0.137 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.6 | NLRP2 |
Sarah Leigh gene: NLRP2 was added gene: NLRP2 was added to Multi locus imprinting disorders. Sources: Imprinting GeCIP Subdomain,Expert Review Green watchlist tags were added to gene: NLRP2. Mode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP2 were set to 19300480; 30221575; 32169557; 28422141; 28317850; 26323243; 29574422; 30877238; 33090377 Phenotypes for gene: NLRP2 were set to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 Penetrance for gene: NLRP2 were set to Complete Mode of pathogenicity for gene: NLRP2 was set to Other |
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| Multi locus imprinting disorders v0.4 | GRB10 | Sarah Leigh Classified gene: GRB10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.4 | GRB10 | Sarah Leigh Gene: grb10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.3 | GRB10 | Sarah Leigh edited their review of gene: GRB10: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The imprinted gene, GRB10, has been associated with Silver-Russell syndrome 2, OMIM:618905 in cases with duplication of 7p including GRB10 (PMID: 10631135;12384779;10987657;33187293).; Changed rating: GREEN; Changed publications to: 10631135, 12384779, 10987657, 33187293 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.3 | GRB10 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.3 | GRB10 | Sarah Leigh Phenotypes for gene: GRB10 were changed from Silver-Russell syndrome to Silver-Russell syndrome 2, OMIM:618905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.2 | GRB10 | Sarah Leigh Entity copied from Genomic imprinting v0.117 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.2 | GRB10 |
Sarah Leigh gene: GRB10 was added gene: GRB10 was added to Multi locus imprinting disorders. Sources: Literature,Expert Review Amber Mode of inheritance for gene: GRB10 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: GRB10 were set to 10861285; 10856193; 27370225; 10856193; 11112662; 30794780; http://igc.otago.ac.nz/home.html Phenotypes for gene: GRB10 were set to Silver-Russell syndrome |
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| Multi locus imprinting disorders v0.1 | PLAGL1 | Sarah Leigh Entity copied from Genomic imprinting v0.113 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v0.1 | PLAGL1 |
Sarah Leigh gene: PLAGL1 was added gene: PLAGL1 was added to Multi locus imprinting disorders. Sources: Expert Review Green,Literature Mode of inheritance for gene: PLAGL1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: PLAGL1 were set to 16928428; 7719335; 8842729; 11935319; 17084362; 10655556; 30794780; http://igc.otago.ac.nz/home.html Phenotypes for gene: PLAGL1 were set to {Diabetes mellitus, transient neonatal 1} , OMIM:601410 |
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| Multi locus imprinting disorders v0.0 |
Sarah Leigh Added Panel Multi locus imprinting disorders Set panel types to: GMS Rare Disease |
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