Activity
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| Multi locus imprinting disorders v1.18 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.17 | Ida Ertmanska Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.16 | NLRP5 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620333) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.16 | NLRP5 | Achchuthan Shanmugasundram Phenotypes for gene: NLRP5 were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all to Oocyte/zygote/embryo maturation arrest 19, OMIM:620333; oocyte/zygote/embryo maturation arrest 19, MONDO:0957231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.15 | NLRP5 | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: NLRP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.15 | NLRP2 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620332) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.15 | NLRP2 | Achchuthan Shanmugasundram Phenotypes for gene: NLRP2 were changed from Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 to Oocyte/zygote/embryo maturation arrest 18, OMIM:620332; oocyte/zygote/embryo maturation arrest 18, MONDO:0957230; Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, MONDO:0016475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.14 | NLRP2 | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: NLRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.14 | NLRP2 |
Achchuthan Shanmugasundram Tag watchlist was removed from gene: NLRP2. Tag gene-checked was removed from gene: NLRP2. |
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| Multi locus imprinting disorders v1.14 | ZFP57 |
Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: ZFP57. Tag to_be_confirmed_NHSE tag was added to gene: ZFP57. |
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| Multi locus imprinting disorders v1.14 | ZFP57 | Ida Ertmanska commented on gene: ZFP57 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.14 | OOEP |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene is rated red on this panel after seeking clinical opinion from Helen Brittain. This is a maternal effect gene with similar genotypes causing different phenotypes. In PMID:29574422, a homozygous variant in mother resulted in a phenotype suggestive of MLID in the offspring, who was heterozygous for the same variant. The current standard testing for this type of finding appears to be MLID methylation test in the proband. In addition, this family is from South East Asian descent and this ethnicity is under-represented in population cohorts raising the question whether the variant might not be responsible for the clinical presentation. In PMID:35946397, compound heterozygous variants (one of these variants is the same as the homozygous variant above) resulted in recurrent preimplantation embryonic arrest in the patient, which is a different phenotype from the one above. In addition, this phenotype does not clearly lead to inclusion in any current panels within the Genomic Medicine Service.; to: Comment on list classification: This gene is rated red on this panel after seeking clinical opinion from Helen Brittain. This is a maternal effect gene with similar genotypes causing different phenotypes. In PMID:29574422, a homozygous variant in mother resulted in a phenotype suggestive of MLID in the offspring, who was heterozygous for the same variant. The current standard testing for this type of finding appears to be MLID methylation test in the proband. In addition, this family is from South East Asian descent and this ethnicity is under-represented in population cohorts raising the question whether the variant might not be responsible for the clinical presentation. In PMID:35946397, compound heterozygous variants (one of these variants is the same as the homozygous variant above) resulted in recurrent preimplantation embryonic arrest in the patient, which is a different phenotype from the one above. In addition, this phenotype does not clearly lead to inclusion in any current panels within the Genomic Medicine Service. |
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| Multi locus imprinting disorders v1.14 | OOEP | Achchuthan Shanmugasundram Classified gene: OOEP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.14 | OOEP |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene is rated red on this panel after seeking clinical opinion from Helen Brittain. This is a maternal effect gene with similar genotypes causing different phenotypes. In PMID:29574422, a homozygous variant in mother resulted in a phenotype suggestive of MLID in the offspring, who was heterozygous for the same variant. The current standard testing for this type of finding appears to be MLID methylation test in the proband. In addition, this family is from South East Asian descent and this ethnicity is under-represented in population cohorts raising the question whether the variant might not be responsible for the clinical presentation. In PMID:35946397, compound heterozygous variants (one of these variants is the same as the homozygous variant above) resulted in recurrent preimplantation embryonic arrest in the patient, which is a different phenotype from the one above. In addition, this phenotype does not clearly lead to inclusion in any current panels within the Genomic Medicine Service. |
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| Multi locus imprinting disorders v1.14 | OOEP | Achchuthan Shanmugasundram Gene: ooep has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.13 | OOEP | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.13 | OOEP |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This is a maternal effect gene with similar genotypes causing different phenotypes. The homozygous variant in mother caused MLID in the offspring (PMID:29574422), and compound heterozygous variants (one of these variants is the same as the homozygous variant) caused recurrent preimplantation embryonic arrest. Hence, clinical opinion is being sought on the rating for this gene.; to: Comment on list classification: This gene is rated red on this panel after seeking clinical opinion from Helen Brittain. This is a maternal effect gene with similar genotypes causing different phenotypes. In PMID:29574422, a homozygous variant in mother resulted in a phenotype suggestive of MLID in the offspring, who was heterozygous for the same variant. The current standard testing for this type of finding appears to be MLID methylation test in the proaband. In PMID:35946397, compound heterozygous variants (one of these variants is the same as the homozygous variant above) caused recurrent preimplantation embryonic arrest in the patient, which is a different phenotype from the one above. In addition, Hence, clinical opinion is being sought on the rating for this gene. |
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| Multi locus imprinting disorders v1.13 | OOEP | Achchuthan Shanmugasundram Classified gene: OOEP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.13 | OOEP | Achchuthan Shanmugasundram Gene: ooep has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.12 | OOEP | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases: one with homozygous, and another with compound heterozygous variants, where one of these is the same as the homozygous variant. There is also some functional evidence available. However, similar genotypes cause different phenotypes. Hence, seeking clinical opinion on this gene before making green. The 'watchlist' tag is therefore added to reflect this.; to: Comment on list classification: This is a maternal effect gene with similar genotypes causing different phenotypes. The homozygous variant in mother caused MLID in the offspring (PMID:29574422), and compound heterozygous variants (one of these variants is the same as the homozygous variant) caused recurrent preimplantation embryonic arrest. Hence, clinical opinion is being sought on the rating for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.12 | OOEP | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are two unrelated cases: one with homozygous, and another with compound heterozygous variants, where one of these is the same as the homozygous variant. There is also some functional evidence available. However, similar genotypes cause different phenotypes. Hence, seeking clinical opinion on this gene before making green. The 'watchlist' tag is therefore added to reflect this.; to: Comment on list classification: There are two unrelated cases: one with homozygous, and another with compound heterozygous variants, where one of these is the same as the homozygous variant. There is also some functional evidence available. However, similar genotypes cause different phenotypes. Hence, seeking clinical opinion on this gene before making green. The 'watchlist' tag is therefore added to reflect this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.12 | OOEP | Achchuthan Shanmugasundram Tag watchlist was removed from gene: OOEP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.12 | ZFP57 | Achchuthan Shanmugasundram Classified gene: ZFP57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.12 | ZFP57 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.12 | ZFP57 | Achchuthan Shanmugasundram Gene: zfp57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.11 | ZFP57 | Achchuthan Shanmugasundram Phenotypes for gene: ZFP57 were changed from MLID to {Diabetes mellitus, transient neonatal 1}, OMIM:601410; Multi-locus imprinting disturbance (MLID) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.10 | ZFP57 | Achchuthan Shanmugasundram Publications for gene: ZFP57 were set to PMID: 39090763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.9 | ZFP57 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: ZFP57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.9 | ZFP57 | Achchuthan Shanmugasundram reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 35296332, 39090763; Phenotypes: {Diabetes mellitus, transient neonatal 1}, OMIM:601410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.9 | OOEP | Achchuthan Shanmugasundram Classified gene: OOEP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.9 | OOEP | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases: one with homozygous, and another with compound heterozygous variants, where one of these is the same as the homozygous variant. There is also some functional evidence available. However, similar genotypes cause different phenotypes. Hence, seeking clinical opinion on this gene before making green. The 'watchlist' tag is therefore added to reflect this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.9 | OOEP | Achchuthan Shanmugasundram Gene: ooep has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.8 | OOEP | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: OOEP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.8 | OOEP | Achchuthan Shanmugasundram Phenotypes for gene: OOEP were changed from MLID to Multi-locus imprinting disturbance (MLID) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.7 | OOEP | Achchuthan Shanmugasundram Publications for gene: OOEP were set to PMID: 39090763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.6 | OOEP | Achchuthan Shanmugasundram reviewed gene: OOEP: Rating: AMBER; Mode of pathogenicity: None; Publications: 29574422, 35946397, 39090763; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multi locus imprinting disorders v1.6 | OOEP |
Dmitrijs Rots gene: OOEP was added gene: OOEP was added to Multi locus imprinting disorders. Sources: Expert list Mode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OOEP were set to PMID: 39090763 Phenotypes for gene: OOEP were set to MLID Penetrance for gene: OOEP were set to unknown Review for gene: OOEP was set to GREEN Added comment: Included in the guidelines for MLID:PMID: 39090763 Sources: Expert list |
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| Multi locus imprinting disorders v1.6 | ZFP57 |
Dmitrijs Rots gene: ZFP57 was added gene: ZFP57 was added to Multi locus imprinting disorders. Sources: Expert list Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFP57 were set to PMID: 39090763 Phenotypes for gene: ZFP57 were set to MLID Penetrance for gene: ZFP57 were set to unknown Review for gene: ZFP57 was set to GREEN Added comment: included in the guidelines PMID: 39090763 Sources: Expert list |
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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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