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Genomic imprinting v0.149 MESTIT1 Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: MESTIT1.
Genomic imprinting v0.149 PEG13 Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: PEG13.
Genomic imprinting v0.149 HYMAI Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: HYMAI.
Genomic imprinting v0.149 SNORD64 Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: SNORD64.
Genomic imprinting v0.149 PGM5P3-AS1 Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: PGM5P3-AS1.
Genomic imprinting v0.149 MIR296 Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: MIR296.
Genomic imprinting v0.149 TMEM247 Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: TMEM247.
Genomic imprinting v0.149 LINC00294 Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: LINC00294.
Genomic imprinting v0.149 MIR675 Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: MIR675.
Genomic imprinting v0.149 KLF14 Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: KLF14.
Genomic imprinting v0.149 SNORD109A Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: SNORD109A.
Genomic imprinting v0.149 IRAIN Arina Puzriakova Tag ensembl_ids_known_missing tag was added to gene: IRAIN.
Genomic imprinting v0.149 SNORD107 Sarah Leigh Tag ensembl_ids_known_missing tag was added to gene: SNORD107.
Genomic imprinting v0.149 RTL1 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:35567414 provides functional evidence from mouse models and human postmortem and surgical resection brains.
Genomic imprinting v0.149 RTL1 Achchuthan Shanmugasundram Publications for gene: RTL1 were set to 30794780; 35567414; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.148 RTL1 Achchuthan Shanmugasundram Publications for gene: RTL1 were set to 30794780; http://igc.otago.ac.nz/home.html
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 v0.147 STX16 Sarah Leigh Mode of inheritance for gene: STX16 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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 v0.145 STX16 Sarah Leigh Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648; 35119251; 35119251
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
Genomic imprinting v0.144 STX16 Sarah Leigh Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648; 35119251
Genomic imprinting v0.143 STX16 Sarah Leigh Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648
Genomic imprinting v0.142 MAGEL2 Sarah Leigh Phenotypes for gene: MAGEL2 were changed from From the Intellectual disability gene panel to Schaaf-Yang syndrome, OMIM:615547; Schaaf-Yang syndrome, MONDO:0014243
Genomic imprinting v0.141 MAGEL2 Sarah Leigh Publications for gene: MAGEL2 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.140 MAGEL2 Sarah Leigh Classified gene: MAGEL2 as Green List (high evidence)
Genomic imprinting v0.140 MAGEL2 Sarah Leigh Gene: magel2 has been classified as Green List (High Evidence).
Genomic imprinting v0.139 Sarah Leigh removed gene:MYH6 from the panel
Genomic imprinting v0.138 MYH6 Sarah Leigh commented on gene: MYH6: There is no evidence that this gene is imprinted. The assignment of the mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) when this gene was added to PanelApp (28 Nov 2016)(https://panelapp.genomicsengland.co.uk/panels/212/gene/MYH6/#!) was an error.
Genomic imprinting v0.138 NLRP5 Sarah Leigh 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 Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder; Affected tissue: all
Genomic imprinting v0.137 KHDC3L Sarah Leigh Publications for gene: KHDC3L were set to 21885028; 31847873; 31201414
Genomic imprinting v0.136 KHDC3L Sarah Leigh Classified gene: KHDC3L as Green List (high evidence)
Genomic imprinting v0.136 KHDC3L Sarah Leigh Gene: khdc3l has been classified as Green List (High Evidence).
Genomic imprinting v0.135 KHDC3L Sarah Leigh edited their review of gene: KHDC3L: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least four variants have been reported in at least five cases of Hydatidiform mole, recurrent, 2 (OMIM;614293)(PMID: 21885028;23232697).; Changed rating: GREEN; Changed publications to: 21885028, 23232697
Genomic imprinting v0.135 KHDC3L Sarah Leigh Added comment: Comment on phenotypes: IUGR;Failure to thrive;pregnancy loss Affected tissue: all (incompatible with life)
Genomic imprinting v0.135 KHDC3L Sarah Leigh Phenotypes for gene: KHDC3L were changed from IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss Affected tissue: all (incompatible with life) to Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671
Genomic imprinting v0.134 PEG3 Sarah Leigh Classified gene: PEG3 as Amber List (moderate evidence)
Genomic imprinting v0.134 PEG3 Sarah Leigh Gene: peg3 has been classified as Amber List (Moderate Evidence).
Genomic imprinting v0.133 PEG3 Sarah Leigh Phenotypes for gene: PEG3 were changed from to dysmorphic features; developmental delay
Genomic imprinting v0.132 PEG3 Sarah Leigh Publications for gene: PEG3 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.131 PEG3 Sarah Leigh reviewed gene: PEG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30007940, 32169557, 31639176, 29734399; Phenotypes: dysmorphic features, developmental delay; Mode of inheritance: None
Genomic imprinting v0.131 SNRPN Sarah Leigh Classified gene: SNRPN as Green List (high evidence)
Genomic imprinting v0.131 SNRPN Sarah Leigh Gene: snrpn has been classified as Green List (High Evidence).
Genomic imprinting v0.130 SNRPN Sarah Leigh Publications for gene: SNRPN were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.129 SNRPN Sarah Leigh edited their review of gene: SNRPN: Added comment: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous cases of variants, including deletions of SNRPN have been reported (PMID: 29437285;34200226;34099539).; Changed rating: GREEN; Changed publications to: 29437285, 34200226, 34099539
Genomic imprinting v0.129 MEG3 Sarah Leigh Phenotypes for gene: MEG3 were changed from Kagami-Ogata syndrome, OMIM:608149; Temple syndrome, OMIM:616222 to Temple syndrome, OMIM:616222; Kagami-Ogata syndrome, OMIM:608149
Genomic imprinting v0.128 MEG3 Sarah Leigh Publications for gene: MEG3 were set to 30794780; 18271756; http://igc.otago.ac.nz/home.html; 29641995
Genomic imprinting v0.127 MEG3 Sarah Leigh Classified gene: MEG3 as Green List (high evidence)
Genomic imprinting v0.127 MEG3 Sarah Leigh Gene: meg3 has been classified as Green List (High Evidence).
Genomic imprinting v0.126 MEG3 Sarah Leigh edited their review of gene: MEG3: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The imprinted gene MEG3 has been associated with multiple cases of Temple syndrome (PMID: 33010492;33746039) and to Kagami-Ogata syndrome (PMID: 33067531).; Changed rating: GREEN; Changed publications to: 33010492, 33746039, 33067531
Genomic imprinting v0.126 MEG3 Sarah Leigh Phenotypes for gene: MEG3 were changed from to Kagami-Ogata syndrome, OMIM:608149; Temple syndrome, OMIM:616222
Genomic imprinting v0.125 GRB10 Sarah Leigh Classified gene: GRB10 as Green List (high evidence)
Genomic imprinting v0.125 GRB10 Sarah Leigh Gene: grb10 has been classified as Green List (High Evidence).
Genomic imprinting v0.124 GRB10 Sarah Leigh Phenotypes for gene: GRB10 were changed from Silver-Russell syndrome to Silver-Russell syndrome 2, OMIM:618905
Genomic imprinting v0.123 GRB10 Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The imprinted gene, GRB10, has been associated with Silver-Russell Syndrome in cases with duplication of 7p including GRB10 (PMID: 10631135;12384779;10987657;33187293).; to: 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).
Genomic imprinting v0.123 GRB10 Sarah Leigh Publications for gene: GRB10 were set to 10861285; 10856193; 27370225; 10856193; 11112662; 30794780; 29455159; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.122 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 in cases with duplication of 7p including GRB10 (PMID: 10631135;12384779;10987657;33187293).; Changed rating: GREEN; Changed publications to: 10631135, 12384779, 10987657, 33187293
Genomic imprinting v0.122 GRB10 Sarah Leigh Deleted their comment
Genomic imprinting v0.122 GRB10 Sarah Leigh Publications for gene: GRB10 were set to 10861285; 10856193; 27370225; 10856193; 11112662; 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.121 MEST Sarah Leigh Classified gene: MEST as Green List (high evidence)
Genomic imprinting v0.121 MEST Sarah Leigh Gene: mest has been classified as Green List (High Evidence).
Genomic imprinting v0.120 MEST Sarah Leigh Publications for gene: MEST were set to 20082469; 30794780; 11754049; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.119 MEST Sarah Leigh edited their review of gene: MEST: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. Epigenetic Analysis of 28 Silver-Russell syndrome patients, revealed methylation changes to MEST by bisulfite pyrosequencing in 3 cases (PMID: 33536359).
MEST had previously been associated with Silver-Russell syndrome 2 (SRS2)(OMIM:618905), due to its location within the area subject to maternal uniparental disomy of chromosome 7 observed in SRS2 cases (PMID: 20082469). This association had been refuted possibly due to small sample size or detection methods (PMID: 18585117;11754049).; Changed rating: GREEN
Genomic imprinting v0.119 MEST Sarah Leigh Deleted their comment
Genomic imprinting v0.119 MEST Sarah Leigh reviewed gene: MEST: Rating: RED; Mode of pathogenicity: None; Publications: 20082469, 18585117, 11754049; Phenotypes: ; Mode of inheritance: None
Genomic imprinting v0.119 MEST Sarah Leigh Phenotypes for gene: MEST were changed from to Silver-Russell syndrome 2, OMIM:618905
Genomic imprinting v0.118 MEST Sarah Leigh Publications for gene: MEST were set to 30794780; 11754049; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.117 GRB10 Sarah Leigh Classified gene: GRB10 as Amber List (moderate evidence)
Genomic imprinting v0.117 GRB10 Sarah Leigh Gene: grb10 has been classified as Amber List (Moderate Evidence).
Genomic imprinting v0.116 GRB10 Sarah Leigh Mode of inheritance for gene: GRB10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Genomic imprinting v0.115 GRB10 Sarah Leigh Phenotypes for gene: GRB10 were changed from to Silver-Russell syndrome
Genomic imprinting v0.114 GRB10 Sarah Leigh Publications for gene: GRB10 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.113 GRB10 Sarah Leigh edited their review of gene: GRB10: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. GRB10 is imprinted in specific tissues and not in others (PMID:10861285). Although GRB10 has been associated with Russell-Silver Syndrome (RSS), with a 574 kb duplication at chromosome 7p12.1 (PMID: 27370225) and a report of the variant p.P95S in the maternal allele of two unrelated cases of RSS (PMID: 10856193); it would appear that this is a rare occurrence and not supported by the maternal uniparental disomy of 7q31-qter and biparental inheritance of the rest of chromosome 7 in another case of RSS (PMID: 11112662).; Changed publications to: 10861285, 10856193, 27370225, 10856193, 11112662
Genomic imprinting v0.113 PLAGL1 Sarah Leigh Phenotypes for gene: PLAGL1 were changed from to {Diabetes mellitus, transient neonatal 1} , OMIM:601410
Genomic imprinting v0.112 PLAGL1 Sarah Leigh Publications for gene: PLAGL1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.111 PLAGL1 Sarah Leigh Classified gene: PLAGL1 as Green List (high evidence)
Genomic imprinting v0.111 PLAGL1 Sarah Leigh Gene: plagl1 has been classified as Green List (High Evidence).
Genomic imprinting v0.110 PLAGL1 Sarah Leigh edited their review of gene: PLAGL1: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The literature shows that PLAGL1 is a transcription factor which is subject to imprinting, resulting in the paternal allele being expressed. Transient neonatal diabetes mellitus is seen where there is an excess expression of the paternal allele, such when there is chromosome 6, paternal uniparental isodisomy of chromosome 6 and paternally inherited duplications of chromosome 6q (PMID: 7719335;8842729). These observations are supported by studie in mice (PMID: 16928428; 17084362).; Changed rating: GREEN; Changed publications to: 16928428, 7719335, 8842729, 11935319, 17084362, 10655556
Genomic imprinting v0.110 KCNQ1 Sarah Leigh Classified gene: KCNQ1 as Green List (high evidence)
Genomic imprinting v0.110 KCNQ1 Sarah Leigh Added comment: Comment on list classification: Based on reviews in Short QT syndrome (https://panelapp.genomicsengland.co.uk/panels/224/gene/KCNQ1/#!review) & Long QT syndrome (https://panelapp.genomicsengland.co.uk/panels/76/gene/KCNQ1/#!review) panels.
Genomic imprinting v0.110 KCNQ1 Sarah Leigh Gene: kcnq1 has been classified as Green List (High Evidence).
Genomic imprinting v0.109 KCNQ1 Sarah Leigh Phenotypes for gene: KCNQ1 were changed from to Short QT syndrome 2, OMIM:609621; Long QT syndrome-1, OMIM:192500; Atrial fibrillation, familial, 3, OMIM:607554
Genomic imprinting v0.108 SNRPN Sarah Leigh Phenotypes for gene: SNRPN were changed from to Prader-Willi syndrome, OMIM:176270
Genomic imprinting v0.107 MEST Sarah Leigh Publications for gene: MEST were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.106 H19 Sarah Leigh Added comment: Comment on phenotypes: Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all
Genomic imprinting v0.106 H19 Sarah Leigh Phenotypes for gene: H19 were changed from Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all to Silver-Russell syndrome, OMIM:180860; Wilms tumor 2, OMIM:194071; Beckwith-Wiedemann syndrome, OMIM:130650
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 v0.104 NLRP2 Sarah Leigh changed review comment from: Comment on list classification: Eamonn Maher has recommented a green rating for this gene on this panel. Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; to: Comment on list classification: Eamonn Maher (Department of Medical Genetics, University of Cambridge) has recommented a green rating for this gene on this panel. Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.
Genomic imprinting v0.104 KCNQ1OT1 Sarah Leigh reviewed gene: KCNQ1OT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic imprinting v0.104 KCNQ1OT1 Sarah Leigh Publications for gene: KCNQ1OT1 were set to 23511928; 15372379; 30794780; http://igc.otago.ac.nz/home.html; 22205991
Genomic imprinting v0.103 KCNQ1OT1 Sarah Leigh Phenotypes for gene: KCNQ1OT1 were changed from Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all to Beckwith-Wiedemann syndrome OMIM:130650
Genomic imprinting v0.102 KCNQ1OT1 Sarah Leigh Publications for gene: KCNQ1OT1 were set to 23511928; PMID: 15372379; 30794780; http://igc.otago.ac.nz/home.html; 22205991
Genomic imprinting v0.101 NLRP2 Sarah Leigh changed review comment from: Comment on list classification: Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; to: Comment on list classification: Eamonn Maher has recommented a green rating for this gene on this panel. Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.
Genomic imprinting v0.101 NLRP2 Sarah Leigh changed review comment from: Comment on list classification: Maternal bialliec variants may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; to: Comment on list classification: Maternal bialliec variants may result in epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480) and early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.
Genomic imprinting v0.101 NLRP2 Sarah Leigh changed review comment from: Comment on list classification: Bialliec variants in a mother may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; to: Comment on list classification: Maternal bialliec variants may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.
Genomic imprinting v0.101 NLRP2 Sarah Leigh changed review comment from: Comment on mode of pathogenicity: NLRP2 variants result in epigenitic disturbance at sites in trans, eg IC2 in imprinting region at 11p15.5 (PMID 19300480).; to: Comment on mode of pathogenicity: Maternal NLRP2 variants result in epigenitic disturbance at sites in trans, eg: IC2 in imprinting region at 11p15.5 (PMID 19300480).
Genomic imprinting v0.101 NLRP2 Sarah Leigh Phenotypes for gene: NLRP2 were changed from Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome. Multi-locus imprinting disorder; Affected tissue: all to Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475
Genomic imprinting v0.100 NLRP2 Sarah Leigh Added comment: Comment on mode of pathogenicity: NLRP2 variants result in epigenitic disturbance at sites in trans, eg IC2 in imprinting region at 11p15.5 (PMID 19300480).
Genomic imprinting v0.100 NLRP2 Sarah Leigh Mode of pathogenicity for gene: NLRP2 was changed from to Other
Genomic imprinting v0.99 NLRP2 Sarah Leigh Classified gene: NLRP2 as Green List (high evidence)
Genomic imprinting v0.99 NLRP2 Sarah Leigh Added comment: Comment on list classification: Bialliec variants in a mother may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.
Genomic imprinting v0.99 NLRP2 Sarah Leigh Gene: nlrp2 has been classified as Green List (High Evidence).
Genomic imprinting v0.98 NLRP2 Sarah Leigh changed review comment from: Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances.

Review from imprinting expert: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing.
Karen Temple (Wessex GMC), 29 Jan 2021; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances.

Review from imprinting expert: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) that is caused by variants in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing.
Karen Temple (Wessex GMC), 29 Jan 2021
Genomic imprinting v0.98 NLRP2 Sarah Leigh Publications for gene: NLRP2 were set to 19300480; 30221575; 32169557; 28422141; 28317850
Genomic imprinting v0.97 PADI6 Sarah Leigh Added comment: Comment on mode of inheritance: Review from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder
Genomic imprinting v0.97 PADI6 Sarah Leigh Mode of inheritance for gene: PADI6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.96 NLRP7 Sarah Leigh Added comment: Comment on mode of inheritance: Review from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder
Genomic imprinting v0.96 NLRP7 Sarah Leigh Mode of inheritance for gene: NLRP7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.95 NLRP5 Sarah Leigh Added comment: Comment on mode of inheritance: Review from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder
Genomic imprinting v0.95 NLRP5 Sarah Leigh Mode of inheritance for gene: NLRP5 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.94 DLK1 Zornitza Stark reviewed gene: DLK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324015, 30462238; Phenotypes: central precocious puberty; Mode of inheritance: None
Genomic imprinting v0.94 TBX5 Sarah Leigh Added comment: Comment on mode of inheritance: There would appear to be no evidence that this gene is imprinted.
Genomic imprinting v0.94 TBX5 Sarah Leigh Mode of inheritance for gene: TBX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.93 TBX5 Arina Puzriakova Tag curated_removed tag was added to gene: TBX5.
Genomic imprinting v0.90 Sarah Leigh Panel name changed from Imprinted Genes to Genomic imprinting
Panel types changed to Research
Genomic imprinting v0.89 SDHD Sarah Leigh commented on gene: SDHD: Differing opinions on the role of SDHD in imprinting have been reported: PMID 15064708 reports "paternal transmission of the disease can be explained by a somatic genetic mechanism targeting both the SDHD gene on 11q23 and a paternally imprinted gene on 11p15.5, rather than imprinting of SDHD". PMID 11391796 reports two affected males, with differing variants transmitted paraganglioma to their children and that monoallelic expression of the mutant (paternal) allele was observed in one case. Also an affected female had 2 unaffected children, consistent with genomic imprinting. However, PMID 18211978 reports maternal transmission of a SDHD-linked paraganglioma to her son, who displayed hypermethylation.
Genomic imprinting v0.89 SDHD Sarah Leigh Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Genomic imprinting v0.88 SDHD Sarah Leigh Publications for gene: SDHD were set to 10657297; 11391796; 30536464; 15064708
Genomic imprinting v0.87 SDHD Sarah Leigh Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.86 SDHD Sarah Leigh Publications for gene: SDHD were set to 10657297; 11391796; 30536464
Genomic imprinting v0.85 NOTCH1 Sarah Leigh Mode of inheritance for gene: NOTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.84 NOTCH1 Sarah Leigh commented on gene: NOTCH1
Genomic imprinting v0.84 NLRP5 Sarah Leigh commented on gene: NLRP5: Comments from Prof Ian Morison (Department of Pathology, University of Otago) NLRP5 is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself.
Genomic imprinting v0.84 NLRP2 Sarah Leigh commented on gene: NLRP2: Comments from Prof Ian Morison (Department of Pathology, University of Otago) NLRP2 is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself.
Genomic imprinting v0.84 KHDC3L Sarah Leigh commented on gene: KHDC3L: Comments from Prof Ian Morison (Department of Pathology, University of Otago) KHDC3L is a component of the subcortical maternal complex. Required for the establishment of imprinting, but not imprinted itself.
Genomic imprinting v0.84 EZH2 Sarah Leigh commented on gene: EZH2: Comments from Prof Ian Morison (Department of Pathology, University of Otago) EZH2 is a component of the Polycomb-group complex. Required for the establishment of imprinting, but not imprinted itself.
Genomic imprinting v0.84 EZH2 Sarah Leigh Deleted their comment
Genomic imprinting v0.84 EZH2 Sarah Leigh changed review comment from: Comment on list classification: EZH2 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Weaver syndrome 277590 is not proven.; to: Comment on list classification: EZH2 has been rated Red on this panel,
Genomic imprinting v0.84 EZH2 Sarah Leigh Classified gene: EZH2 as Red List (low evidence)
Genomic imprinting v0.84 EZH2 Sarah Leigh Gene: ezh2 has been classified as Red List (Low Evidence).
Genomic imprinting v0.83 SIX3 Sarah Leigh Mode of inheritance for gene: SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic imprinting v0.82 SIX3 Sarah Leigh changed review comment from: Comment on list classification: SIX3 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not proven.; to: Comment on list classification: SIX3 has been rated as Red rating on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not certain.
Genomic imprinting v0.82 SIX3 Sarah Leigh Classified gene: SIX3 as Red List (low evidence)
Genomic imprinting v0.82 SIX3 Sarah Leigh Gene: six3 has been classified as Red List (Low Evidence).
Genomic imprinting v0.81 ZFP57 Sarah Leigh Classified gene: ZFP57 as Green List (high evidence)
Genomic imprinting v0.81 ZFP57 Sarah Leigh Gene: zfp57 has been classified as Green List (High Evidence).
Genomic imprinting v0.80 ZFP57 Sarah Leigh Phenotypes for gene: ZFP57 were changed from Phenotype resulting from under expression: Transient Neonatal Diabetes Mellitus Type 1; Multi-locus imprinting disorder; Affected tissue: pancreatic beta-cells (prenatal growth restriction) to Diabetes mellitus, transient neonatal 1 OMIM:601410; diabetes mellitus, transient neonatal, 1MONDO:0011073; IUGR; Multi Locus Imprinting Disturbance
Genomic imprinting v0.79 ZFP57 Sarah Leigh reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genomic imprinting v0.79 KHDC3L Sarah Leigh Phenotypes for gene: KHDC3L were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life) to IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss Affected tissue: all (incompatible with life)
Genomic imprinting v0.78 KHDC3L Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.78 KHDC3L Sarah Leigh Mode of inheritance for gene: KHDC3L was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.77 PADI6 Sarah Leigh Phenotypes for gene: PADI6 were changed from Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance to Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance
Genomic imprinting v0.76 PADI6 Sarah Leigh Phenotypes for gene: PADI6 were changed from Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome to Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance
Genomic imprinting v0.75 PADI6 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.75 PADI6 Sarah Leigh Mode of inheritance for gene: PADI6 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.74 PADI6 Sarah Leigh Classified gene: PADI6 as Green List (high evidence)
Genomic imprinting v0.74 PADI6 Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of PADI6 variants in Multi Locus Imprinting Disturbances.
Genomic imprinting v0.74 PADI6 Sarah Leigh Gene: padi6 has been classified as Green List (High Evidence).
Genomic imprinting v0.73 NLRP7 Sarah Leigh Classified gene: NLRP7 as Green List (high evidence)
Genomic imprinting v0.73 NLRP7 Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP7 variants in Multi Locus Imprinting Disturbances.
Genomic imprinting v0.73 NLRP7 Sarah Leigh Gene: nlrp7 has been classified as Green List (High Evidence).
Genomic imprinting v0.72 NLRP5 Sarah Leigh Classified gene: NLRP5 as Green List (high evidence)
Genomic imprinting v0.72 NLRP5 Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP5 variants in Multi Locus Imprinting Disturbances.
Genomic imprinting v0.72 NLRP5 Sarah Leigh Gene: nlrp5 has been classified as Green List (High Evidence).
Genomic imprinting v0.71 NLRP7 Sarah Leigh Phenotypes for gene: NLRP7 were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life); Multi Locus Imprinting Disturbance 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
Genomic imprinting v0.70 NLRP7 Sarah Leigh Phenotypes for gene: NLRP7 were changed from Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life) to Phenotype resulting from under expression: Biparental complete hydatidiform mole; Affected tissue: all (incompatible with life); Multi Locus Imprinting Disturbance
Genomic imprinting v0.69 NLRP7 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.69 NLRP7 Sarah Leigh Mode of inheritance for gene: NLRP7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.68 NLRP5 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.68 NLRP5 Sarah Leigh Mode of inheritance for gene: NLRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.67 NLRP2 Sarah Leigh Tag watchlist tag was added to gene: NLRP2.
Genomic imprinting v0.67 NLRP2 Sarah Leigh changed review comment from: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing.
Karen Temple (Wessex GMC), 29 Jan 2021; to: Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances.

Review from imprinting expert: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing.
Karen Temple (Wessex GMC), 29 Jan 2021
Genomic imprinting v0.67 NLRP2 Sarah Leigh commented on gene: NLRP2: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) ithat s caused by mutations in NLRP2 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing.
Karen Temple (Wessex GMC), 29 Jan 2021
Genomic imprinting v0.67 NLRP2 Sarah Leigh Added comment: Comment on mode of inheritance: The MOI based on review by Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).
Genomic imprinting v0.67 NLRP2 Sarah Leigh Mode of inheritance for gene: NLRP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic imprinting v0.66 MYH6 Sarah Leigh Publications for gene: MYH6 were set to 28991257; 31727837
Genomic imprinting v0.65 MYH6 Sarah Leigh Publications for gene: MYH6 were set to 28991257
Genomic imprinting v0.63 MYH6 Sarah Leigh Classified gene: MYH6 as Red List (low evidence)
Genomic imprinting v0.63 MYH6 Sarah Leigh Gene: myh6 has been classified as Red List (Low Evidence).
Genomic imprinting v0.62 MYH6 Sarah Leigh changed review comment from: Comment on list classification: MYH6 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism has not been proven.; to: Comment on list classification: MYH6 has been given a Red rating on this panel, as an imprinting mechanism has not been proven.
Genomic imprinting v0.62 MESTIT1 Sarah Leigh gene: MESTIT1 was added
gene: MESTIT1 was added to Imprinted Genes. Sources: Literature
locus-type-rna-long-non-coding tags were added to gene: MESTIT1.
Mode of inheritance for gene: MESTIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MESTIT1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.61 GPR1-AS Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: GPR1-AS.
Genomic imprinting v0.61 IRAIN Sarah Leigh gene: IRAIN was added
gene: IRAIN was added to Imprinted Genes. Sources: Literature
locus-type-rna-long-non-coding tags were added to gene: IRAIN.
Mode of inheritance for gene: IRAIN was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IRAIN were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.60 GPR1-AS Sarah Leigh Publications for gene: GPR1-AS were set to 30794780
Genomic imprinting v0.59 GPR1-AS Sarah Leigh gene: GPR1-AS was added
gene: GPR1-AS was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: GPR1-AS was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: GPR1-AS were set to 30794780
Genomic imprinting v0.58 NLRP2 Sarah Leigh Publications for gene: NLRP2 were set to 19300480; 30221575; 32169557; 28422141
Genomic imprinting v0.55 MYH6 Sarah Leigh Added comment: Comment on publications: additional variants in table S3 and biallelic moi
Genomic imprinting v0.55 MYH6 Sarah Leigh Publications for gene: MYH6 were set to
Genomic imprinting v0.54 SDHD Sarah Leigh Added comment: Comment on mode of inheritance: The MOI for SDHD was agreed upon by three NHS clinicians on the Multiple endocrine tumours panel (https://panelapp.genomicsengland.co.uk/panels/36/gene/SDHD/)
Genomic imprinting v0.54 SDHD Sarah Leigh Mode of inheritance for gene: SDHD was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Genomic imprinting v0.53 SDHD Sarah Leigh Publications for gene: SDHD were set to
Genomic imprinting v0.52 NOTCH1 Sarah Leigh Publications for gene: NOTCH1 were set to
Genomic imprinting v0.51 ZFP57 Sarah Leigh Publications for gene: ZFP57 were set to PMID: 18622393; 23150280
Genomic imprinting v0.50 EZH2 Sarah Leigh Publications for gene: EZH2 were set to 32243864; 12649488; 18848501
Genomic imprinting v0.49 DLK1 Sarah Leigh Publications for gene: DLK1 were set to 30794780; 18271756; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.48 MEG3 Sarah Leigh Publications for gene: MEG3 were set to 30794780; 18271756; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.47 NLRP7 Sarah Leigh Publications for gene: NLRP7 were set to PMID: 16462743; 19246479;
Genomic imprinting v0.46 NLRP5 Sarah Leigh Publications for gene: NLRP5 were set to PMID: 26323243
Genomic imprinting v0.45 NLRP2 Sarah Leigh Publications for gene: NLRP2 were set to 19300480; 30221575; 32169557
Genomic imprinting v0.44 NLRP2 Sarah Leigh Publications for gene: NLRP2 were set to PMID: 19300480
Genomic imprinting v0.43 KHDC3L Sarah Leigh Publications for gene: KHDC3L were set to 21885028; 31847873
Genomic imprinting v0.42 KHDC3L Sarah Leigh Publications for gene: KHDC3L were set to PMID: 21885028
Genomic imprinting v0.41 MYH6 Sarah Leigh Mode of inheritance for gene: MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.40 MYH6 Sarah Leigh Classified gene: MYH6 as No list
Genomic imprinting v0.40 MYH6 Sarah Leigh Added comment: Comment on list classification: MYH6 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism has not been proven.
Genomic imprinting v0.40 MYH6 Sarah Leigh Gene: myh6 has been removed from the panel.
Genomic imprinting v0.39 EZH2 Sarah Leigh Phenotypes for gene: EZH2 were changed from Weaver syndrome OMIM:277590 to Weaver syndrome OMIM:277590
Genomic imprinting v0.38 EZH2 Sarah Leigh Added comment: Comment on phenotypes: From the Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders gene panel
Genomic imprinting v0.38 EZH2 Sarah Leigh Phenotypes for gene: EZH2 were changed from From the Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders gene panel to Weaver syndrome OMIM:277590
Genomic imprinting v0.37 SIX3 Sarah Leigh changed review comment from: Comment on list classification: SIX3 has been demoted the rating to 'Grey' on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not proven.; to: Comment on list classification: SIX3 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not proven.
Genomic imprinting v0.37 EZH2 Sarah Leigh Classified gene: EZH2 as No list
Genomic imprinting v0.37 EZH2 Sarah Leigh Added comment: Comment on list classification: EZH2 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Weaver syndrome 277590 is not proven.
Genomic imprinting v0.37 EZH2 Sarah Leigh Gene: ezh2 has been removed from the panel.
Genomic imprinting v0.36 EZH2 Sarah Leigh Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.35 EZH2 Sarah Leigh Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic imprinting v0.34 EZH2 Sarah Leigh Added comment: Comment on mode of inheritance: EZH2 is a epigene, where LOF or GOF variants result in a characterist genome-wide, multilocus DNA methylation signature in the carrier. There does not appear to be evidence for allele specificity of this effect and so this gene should not be regarded as imprinted (PMID 32243864).
Genomic imprinting v0.34 EZH2 Sarah Leigh Mode of inheritance for gene: EZH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.33 EZH2 Sarah Leigh Publications for gene: EZH2 were set to
Genomic imprinting v0.32 SIX3 Sarah Leigh Classified gene: SIX3 as No list
Genomic imprinting v0.32 SIX3 Sarah Leigh Added comment: Comment on list classification: SIX3 has been demoted the rating to 'Grey' on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not proven.
Genomic imprinting v0.32 SIX3 Sarah Leigh Gene: six3 has been removed from the panel.
Genomic imprinting v0.31 SIX3 Sarah Leigh Classified gene: SIX3 as No list
Genomic imprinting v0.31 SIX3 Sarah Leigh Gene: six3 has been removed from the panel.
Genomic imprinting v0.30 SIX3 Sarah Leigh Phenotypes for gene: SIX3 were changed from From the Ocular coloboma gene panel to Holoprosencephaly 2 OMIM:157170
Genomic imprinting v0.29 SIX3 Sarah Leigh Publications for gene: SIX3 were set to
Genomic imprinting v0.28 SIX3 Sarah Leigh Added comment: Comment on mode of inheritance: SIX3 was previously listed as an imprinted gene, with maternal expression. It would appear that this is not the case, although there is variable penetrance of the Holoprosencephaly 2 157170 phenotype in at least three unrelated families (PMID 17001667;19353631;19346217).
Genomic imprinting v0.28 SIX3 Sarah Leigh Mode of inheritance for gene: SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genomic imprinting v0.27 STX16 Sarah Leigh gene: STX16 was added
gene: STX16 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: STX16 were set to 14561710; 15579741; 15800843; 33320452; 32337648
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB OMIM:603233; pseudohypoparathyroidism type 1B:MONDO:0011301
Review for gene: STX16 was set to GREEN
Added comment: 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
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 VTRNA2-1 Sarah Leigh Tag locus-type-rna-vault tag was added to gene: VTRNA2-1.
Genomic imprinting v0.26 SNORD109B Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: SNORD109B.
Genomic imprinting v0.26 SNORD115-1 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: SNORD115-1.
Genomic imprinting v0.26 SNORD116-1 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: SNORD116-1.
Genomic imprinting v0.26 SNORD109A Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: SNORD109A.
Genomic imprinting v0.26 SNORD108 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: SNORD108.
Genomic imprinting v0.26 SNORD64 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: SNORD64.
Genomic imprinting v0.26 SNORD107 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: SNORD107.
Genomic imprinting v0.26 RNU5D-1 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU5D-1.
Genomic imprinting v0.26 MIR675 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR675.
Genomic imprinting v0.26 MIR512-1 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR512-1.
Genomic imprinting v0.26 MIR483 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR483.
Genomic imprinting v0.26 MIR373 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR373.
Genomic imprinting v0.26 MIR337 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR337.
Genomic imprinting v0.26 MIR298 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR298.
Genomic imprinting v0.26 MIR296 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR296.
Genomic imprinting v0.26 MIR134 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR134.
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 KCNQ1DN Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: KCNQ1DN.
Genomic imprinting v0.26 KCNQ1OT1 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: KCNQ1OT1.
Genomic imprinting v0.26 IGF2-AS Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: IGF2-AS.
Genomic imprinting v0.26 LINC00294 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: LINC00294.
Genomic imprinting v0.26 WT1-AS Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: WT1-AS.
Genomic imprinting v0.26 PROSER2-AS1 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: PROSER2-AS1.
Genomic imprinting v0.26 PGM5P3-AS1 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: PGM5P3-AS1.
Genomic imprinting v0.26 ZFAT-AS1 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: ZFAT-AS1.
Genomic imprinting v0.26 STX18-AS1 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: STX18-AS1.
Genomic imprinting v0.26 PAX8-AS1 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: PAX8-AS1.
Genomic imprinting v0.26 ZFAT-AS1 Sarah Leigh reviewed gene: ZFAT-AS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 WT1 Sarah Leigh reviewed gene: WT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 WT1-AS Sarah Leigh reviewed gene: WT1-AS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 VTRNA2-1 Sarah Leigh reviewed gene: VTRNA2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SNHG14 Sarah Leigh reviewed gene: SNHG14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 STX18-AS1 Sarah Leigh reviewed gene: STX18-AS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SNORD116-1 Sarah Leigh reviewed gene: SNORD116-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SNORD115-1 Sarah Leigh reviewed gene: SNORD115-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PROSER2-AS1 Sarah Leigh reviewed gene: PROSER2-AS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 MEG3 Sarah Leigh reviewed gene: MEG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 DLK1 Sarah Leigh reviewed gene: DLK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PGM5P3-AS1 Sarah Leigh reviewed gene: PGM5P3-AS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PAX8-AS1 Sarah Leigh reviewed gene: PAX8-AS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PAPLN Sarah Leigh reviewed gene: PAPLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 MIR512-1 Sarah Leigh reviewed gene: MIR512-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 MIR373 Sarah Leigh reviewed gene: MIR373: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 MCTS2P Sarah Leigh reviewed gene: MCTS2P: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PSCA Sarah Leigh reviewed gene: PSCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 INPP5F Sarah Leigh reviewed gene: INPP5F: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ARVCF Sarah Leigh reviewed gene: ARVCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 DLEU7 Sarah Leigh reviewed gene: DLEU7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 LPAR6 Sarah Leigh reviewed gene: LPAR6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 MAPK8IP1 Sarah Leigh reviewed gene: MAPK8IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ITGA8 Sarah Leigh reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SCIN Sarah Leigh reviewed gene: SCIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 KIF25 Sarah Leigh reviewed gene: KIF25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 CD83 Sarah Leigh reviewed gene: CD83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ZNF354C Sarah Leigh reviewed gene: ZNF354C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 MELTF Sarah Leigh reviewed gene: MELTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ACOT11 Sarah Leigh reviewed gene: ACOT11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SIAH1 Sarah Leigh reviewed gene: SIAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 CYP24A1 Sarah Leigh reviewed gene: CYP24A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 CST1 Sarah Leigh reviewed gene: CST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 CLEC3A Sarah Leigh reviewed gene: CLEC3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 LRRK1 Sarah Leigh reviewed gene: LRRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ART5 Sarah Leigh reviewed gene: ART5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PTCHD3 Sarah Leigh reviewed gene: PTCHD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PTK2B Sarah Leigh reviewed gene: PTK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 RNF144B Sarah Leigh reviewed gene: RNF144B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 MDGA1 Sarah Leigh reviewed gene: MDGA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 RAB7A Sarah Leigh reviewed gene: RAB7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 IL12RB2 Sarah Leigh reviewed gene: IL12RB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 TRAPPC9 Sarah Leigh reviewed gene: TRAPPC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 BLCAP Sarah Leigh reviewed gene: BLCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 GRB10 Sarah Leigh reviewed gene: GRB10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 IGF2-AS Sarah Leigh reviewed gene: IGF2-AS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v0.26 FAM50B Sarah Leigh reviewed gene: FAM50B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 CBR1 Sarah Leigh reviewed gene: CBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PRMT2 Sarah Leigh reviewed gene: PRMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ZHX3 Sarah Leigh reviewed gene: ZHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ZNF331 Sarah Leigh reviewed gene: ZNF331: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 CACNA1A Sarah Leigh reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 GNG7 Sarah Leigh reviewed gene: GNG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ICAM1 Sarah Leigh reviewed gene: ICAM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 AXL Sarah Leigh reviewed gene: AXL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SEPT4 Sarah Leigh edited their review of gene: SEPT4: Added comment: Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human).; Changed rating: AMBER
Genomic imprinting v0.26 ZFP90 Sarah Leigh reviewed gene: ZFP90: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 RYR3 Sarah Leigh reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SNRPN Sarah Leigh reviewed gene: SNRPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 NDN Sarah Leigh edited their review of gene: NDN: Added comment: Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human).; Changed rating: AMBER
Genomic imprinting v0.26 PCK2 Sarah Leigh reviewed gene: PCK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 FGF14 Sarah Leigh reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 OPCML Sarah Leigh reviewed gene: OPCML: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 NTM Sarah Leigh reviewed gene: NTM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PAK1 Sarah Leigh reviewed gene: PAK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ANO1 Sarah Leigh reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SLC22A18 Sarah Leigh reviewed gene: SLC22A18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 CDKN1C Sarah Leigh reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 IGF2 Sarah Leigh reviewed gene: IGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ALKBH3 Sarah Leigh reviewed gene: ALKBH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 CPXM2 Sarah Leigh reviewed gene: CPXM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 JMJD1C Sarah Leigh reviewed gene: JMJD1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 EXD3 Sarah Leigh reviewed gene: EXD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 GLIS3 Sarah Leigh reviewed gene: GLIS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 DENND3 Sarah Leigh reviewed gene: DENND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 R3HCC1 Sarah Leigh reviewed gene: R3HCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PRKAG2 Sarah Leigh reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PDK4 Sarah Leigh reviewed gene: PDK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PEG10 Sarah Leigh reviewed gene: PEG10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SGCE Sarah Leigh reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 TFPI2 Sarah Leigh reviewed gene: TFPI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 RAPGEF5 Sarah Leigh reviewed gene: RAPGEF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SLC22A3 Sarah Leigh reviewed gene: SLC22A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PLAGL1 Sarah Leigh reviewed gene: PLAGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PHACTR2 Sarah Leigh reviewed gene: PHACTR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 CUL7 Sarah Leigh reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 NUDT12 Sarah Leigh reviewed gene: NUDT12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 RHOBTB3 Sarah Leigh reviewed gene: RHOBTB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 FAM149A Sarah Leigh reviewed gene: FAM149A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SFRP2 Sarah Leigh reviewed gene: SFRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 NAP1L5 Sarah Leigh reviewed gene: NAP1L5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SH3BP2 Sarah Leigh reviewed gene: SH3BP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PDE6B Sarah Leigh reviewed gene: PDE6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 FGF12 Sarah Leigh reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 SLC4A7 Sarah Leigh reviewed gene: SLC4A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ZDBF2 Sarah Leigh reviewed gene: ZDBF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 ICA1L Sarah Leigh reviewed gene: ICA1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 DNAH7 Sarah Leigh reviewed gene: DNAH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 PAX8 Sarah Leigh reviewed gene: PAX8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 THUMPD2 Sarah Leigh reviewed gene: THUMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 LRRTM1 Sarah Leigh reviewed gene: LRRTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 THAP3 Sarah Leigh reviewed gene: THAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Genomic imprinting v0.26 DIRAS3 Sarah Leigh edited their review of gene: DIRAS3: Added comment: Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human).; Changed rating: AMBER
Genomic imprinting v0.25 PADI6 Sarah Leigh gene: PADI6 was added
gene: PADI6 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PADI6 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: PADI6 were set to 32928291; 33221824; 27545678
Phenotypes for gene: PADI6 were set to Preimplantation embryonic lethality 2 OMIM:617234; Beckwith-Wiedemann syndrome
Review for gene: PADI6 was set to AMBER
Added comment: PMID: 32928291 reports three variants associated with Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance in three cases. Five variants have also been associated with Preimplantation embryonic lethality 2, where they have been biallelic in the women affected (pmid 27545678).
Sources: Literature
Genomic imprinting v0.24 SEPT4 Sarah Leigh Tag new-gene-name tag was added to gene: SEPT4.
Genomic imprinting v0.24 SEPT4 Sarah Leigh commented on gene: SEPT4
Genomic imprinting v0.24 SLC9A7 Sarah Leigh gene: SLC9A7 was added
gene: SLC9A7 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SLC9A7 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: SLC9A7 were set to 30794780
Genomic imprinting v0.24 SNU13 Sarah Leigh gene: SNU13 was added
gene: SNU13 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNU13 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: SNU13 were set to 25848752; 30794780
Genomic imprinting v0.24 CACNA1I Sarah Leigh gene: CACNA1I was added
gene: CACNA1I was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CACNA1I was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CACNA1I were set to 27835649; 30794780
Genomic imprinting v0.24 ARVCF Sarah Leigh gene: ARVCF was added
gene: ARVCF was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ARVCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARVCF were set to 30794780; 26769960
Genomic imprinting v0.24 TPTEP1 Sarah Leigh gene: TPTEP1 was added
gene: TPTEP1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: TPTEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: TPTEP1 were set to 27835649; 30794780
Genomic imprinting v0.24 CBR1 Sarah Leigh gene: CBR1 was added
gene: CBR1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CBR1 were set to 30794780; 27843122
Genomic imprinting v0.24 PRMT2 Sarah Leigh gene: PRMT2 was added
gene: PRMT2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PRMT2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PRMT2 were set to 30794780; 26769960
Genomic imprinting v0.24 GDAP1L1 Sarah Leigh gene: GDAP1L1 was added
gene: GDAP1L1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: GDAP1L1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: GDAP1L1 were set to http://www.geneimprint.com/site/genes-by-species.Homo+sapiens; 30794780
Genomic imprinting v0.24 MIR298 Sarah Leigh gene: MIR298 was added
gene: MIR298 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MIR298 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MIR298 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 MIR296 Sarah Leigh gene: MIR296 was added
gene: MIR296 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MIR296 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MIR296 were set to 30794780; http://igc.otago.ac.nz/home.html
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
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
Genomic imprinting v0.24 CYP24A1 Sarah Leigh gene: CYP24A1 was added
gene: CYP24A1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CYP24A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CYP24A1 were set to 30794780; 26769960
Genomic imprinting v0.24 SGK2 Sarah Leigh gene: SGK2 was added
gene: SGK2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SGK2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGK2 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 L3MBTL1 Sarah Leigh Source Literature was added to L3MBTL1.
Publications for gene L3MBTL1 were updated from PMID: 15123827; 23543057 to 23543057; 30794780; PMID: 15123827; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 ZHX3 Sarah Leigh gene: ZHX3 was added
gene: ZHX3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZHX3 were set to 27835649; 30794780
Genomic imprinting v0.24 BLCAP Sarah Leigh gene: BLCAP was added
gene: BLCAP was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: BLCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BLCAP were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 NNAT Sarah Leigh gene: NNAT was added
gene: NNAT was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: NNAT was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: NNAT were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 ACTL10 Sarah Leigh gene: ACTL10 was added
gene: ACTL10 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ACTL10 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ACTL10 were set to 27835649; 30794780
Genomic imprinting v0.24 MCTS2P Sarah Leigh gene: MCTS2P was added
gene: MCTS2P was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MCTS2P was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MCTS2P were set to 17291163; http://igc.otago.ac.nz/home.html; 30794780; 16815567
Genomic imprinting v0.24 CST1 Sarah Leigh gene: CST1 was added
gene: CST1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CST1 were set to http://igc.otago.ac.nz/home.html; 30794780; 25953952
Genomic imprinting v0.24 ZNF542P Sarah Leigh gene: ZNF542P was added
gene: ZNF542P was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZNF542P was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: ZNF542P were set to 30794780; 27843122
Genomic imprinting v0.24 MIMT1 Sarah Leigh gene: MIMT1 was added
gene: MIMT1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MIMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MIMT1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 PEG3 Sarah Leigh gene: PEG3 was added
gene: PEG3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PEG3 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 ZIM2 Sarah Leigh gene: ZIM2 was added
gene: ZIM2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZIM2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZIM2 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 MIR512-1 Sarah Leigh gene: MIR512-1 was added
gene: MIR512-1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MIR512-1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MIR512-1 were set to 20610438; 30794780
Genomic imprinting v0.24 MIR373 Sarah Leigh gene: MIR373 was added
gene: MIR373 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MIR373 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MIR373 were set to 30794780; 24201333; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 ZNF331 Sarah Leigh gene: ZNF331 was added
gene: ZNF331 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZNF331 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZNF331 were set to http://igc.otago.ac.nz/home.html; 30794780; 25953952
Genomic imprinting v0.24 CACNA1A Sarah Leigh gene: CACNA1A was added
gene: CACNA1A was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CACNA1A were set to 27835649; 30794780
Genomic imprinting v0.24 ANO8 Sarah Leigh gene: ANO8 was added
gene: ANO8 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ANO8 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: ANO8 were set to 30794780; 26769960
Genomic imprinting v0.24 GNG7 Sarah Leigh gene: GNG7 was added
gene: GNG7 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: GNG7 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: GNG7 were set to 25848752; 30794780
Genomic imprinting v0.24 ZNF833P Sarah Leigh gene: ZNF833P was added
gene: ZNF833P was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZNF833P was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZNF833P were set to 30794780; 26769960
Genomic imprinting v0.24 FDX2 Sarah Leigh gene: FDX2 was added
gene: FDX2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: FDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: FDX2 were set to 30794780; 27843122
Genomic imprinting v0.24 ICAM1 Sarah Leigh gene: ICAM1 was added
gene: ICAM1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ICAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: ICAM1 were set to 30794780; 27843122
Genomic imprinting v0.24 S1PR2 Sarah Leigh gene: S1PR2 was added
gene: S1PR2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: S1PR2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: S1PR2 were set to 30794780; 27843122
Genomic imprinting v0.24 DNMT1 Sarah Leigh gene: DNMT1 was added
gene: DNMT1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: DNMT1 were set to 24094292; 21749726; 30794780; 24402520; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 AXL Sarah Leigh gene: AXL was added
gene: AXL was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: AXL was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: AXL were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 ZNF714 Sarah Leigh gene: ZNF714 was added
gene: ZNF714 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZNF714 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZNF714 were set to 30794780; 27843122
Genomic imprinting v0.24 SEPT4 Sarah Leigh gene: SEPT4 was added
gene: SEPT4 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SEPT4 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SEPT4 were set to 30794780; 26769960
Genomic imprinting v0.24 NLGN2 Sarah Leigh gene: NLGN2 was added
gene: NLGN2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: NLGN2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: NLGN2 were set to 30794780; 27843122
Genomic imprinting v0.24 CLEC3A Sarah Leigh gene: CLEC3A was added
gene: CLEC3A was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CLEC3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLEC3A were set to 30794780; 26769960
Genomic imprinting v0.24 ZFP90 Sarah Leigh gene: ZFP90 was added
gene: ZFP90 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZFP90 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZFP90 were set to 30794780; 26769960
Genomic imprinting v0.24 PDPR Sarah Leigh gene: PDPR was added
gene: PDPR was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PDPR was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: PDPR were set to 30794780; 27843122
Genomic imprinting v0.24 NAA60 Sarah Leigh gene: NAA60 was added
gene: NAA60 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: NAA60 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: NAA60 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 ZNF597 Sarah Leigh gene: ZNF597 was added
gene: ZNF597 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZNF597 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: ZNF597 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 SIAH1 Sarah Leigh gene: SIAH1 was added
gene: SIAH1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIAH1 were set to 30794780; 26769960
Genomic imprinting v0.24 LRRK1 Sarah Leigh gene: LRRK1 was added
gene: LRRK1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: LRRK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRK1 were set to 30794780; 26769960
Genomic imprinting v0.24 FAM174B Sarah Leigh gene: FAM174B was added
gene: FAM174B was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: FAM174B was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: FAM174B were set to 30794780; 27843122
Genomic imprinting v0.24 RASGRF1 Sarah Leigh gene: RASGRF1 was added
gene: RASGRF1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RASGRF1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: RASGRF1 were set to 30794780; 26769960
Genomic imprinting v0.24 DNM1P35 Sarah Leigh gene: DNM1P35 was added
gene: DNM1P35 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: DNM1P35 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: DNM1P35 were set to 30794780; 26769960
Genomic imprinting v0.24 RYR3 Sarah Leigh gene: RYR3 was added
gene: RYR3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: RYR3 were set to 27835649; 30794780
Genomic imprinting v0.24 SNHG14 Sarah Leigh gene: SNHG14 was added
gene: SNHG14 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNHG14 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNHG14 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 PWRN1 Sarah Leigh gene: PWRN1 was added
gene: PWRN1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PWRN1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PWRN1 were set to http://igc.otago.ac.nz/home.html; 30794780; 25953952
Genomic imprinting v0.24 UBE3A Sarah Leigh Source Literature was added to UBE3A.
Publications for gene UBE3A were updated from PMID: 9887341; 8988171; 8988172; 21974935; [7795645; 2309780; 12545427; 18500341] to 21974935; 18500341]; 2309780; PMID: 9887341; 30794780; 12545427; [7795645; 8988171; http://igc.otago.ac.nz/home.html; 8988172
Genomic imprinting v0.24 SNORD109B Sarah Leigh gene: SNORD109B was added
gene: SNORD109B was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNORD109B was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNORD109B were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 SNORD115-1 Sarah Leigh gene: SNORD115-1 was added
gene: SNORD115-1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNORD115-1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNORD115-1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 SNORD116-1 Sarah Leigh gene: SNORD116-1 was added
gene: SNORD116-1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNORD116-1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNORD116-1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 SNORD109A Sarah Leigh gene: SNORD109A was added
gene: SNORD109A was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNORD109A was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNORD109A were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 SNORD108 Sarah Leigh gene: SNORD108 was added
gene: SNORD108 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNORD108 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNORD108 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 SNORD64 Sarah Leigh gene: SNORD64 was added
gene: SNORD64 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNORD64 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNORD64 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 SNORD107 Sarah Leigh gene: SNORD107 was added
gene: SNORD107 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNORD107 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNORD107 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 SNRPN Sarah Leigh gene: SNRPN was added
gene: SNRPN was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNRPN was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNRPN were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 SNURF Sarah Leigh gene: SNURF was added
gene: SNURF was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SNURF was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SNURF were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 NPAP1 Sarah Leigh gene: NPAP1 was added
gene: NPAP1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: NPAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: NPAP1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.24 NDN Sarah Leigh Publications for gene NDN were updated from 28213671 to 28213671 ; 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 ZNF215 Sarah Leigh gene: ZNF215 was added
gene: ZNF215 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZNF215 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: ZNF215 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 ZC3H12C Sarah Leigh gene: ZC3H12C was added
gene: ZC3H12C was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZC3H12C was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZC3H12C were set to http://www.geneimprint.com/site/genes-by-species.Homo+sapiens; 30794780; 24402520
Genomic imprinting v0.23 WT1-AS Sarah Leigh gene: WT1-AS was added
gene: WT1-AS was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: WT1-AS was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: WT1-AS were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 WT1 Sarah Leigh gene: WT1 was added
gene: WT1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: WT1 were set to 30794780; 14681303; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 WIF1 Sarah Leigh gene: WIF1 was added
gene: WIF1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: WIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: WIF1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 VWA2 Sarah Leigh gene: VWA2 was added
gene: VWA2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: VWA2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: VWA2 were set to 30794780; 27843122
Genomic imprinting v0.23 VSTM5 Sarah Leigh gene: VSTM5 was added
gene: VSTM5 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: VSTM5 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: VSTM5 were set to 30794780; 27843122
Genomic imprinting v0.23 TIGAR Sarah Leigh gene: TIGAR was added
gene: TIGAR was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: TIGAR was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: TIGAR were set to 30794780; 27843122
Genomic imprinting v0.23 SPA17 Sarah Leigh gene: SPA17 was added
gene: SPA17 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SPA17 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SPA17 were set to 30794780; 27843122
Genomic imprinting v0.23 SLC22A18 Sarah Leigh gene: SLC22A18 was added
gene: SLC22A18 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SLC22A18 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: SLC22A18 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 RTL1 Sarah Leigh gene: RTL1 was added
gene: RTL1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: RTL1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 RNF141 Sarah Leigh gene: RNF141 was added
gene: RNF141 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RNF141 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: RNF141 were set to 30794780; 27843122
Genomic imprinting v0.23 RB1 Sarah Leigh gene: RB1 was added
gene: RB1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: RB1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 PHLDA2 Sarah Leigh gene: PHLDA2 was added
gene: PHLDA2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PHLDA2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: PHLDA2 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 PCK2 Sarah Leigh gene: PCK2 was added
gene: PCK2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PCK2 were set to 30794780; 27843122
Genomic imprinting v0.23 PAPLN Sarah Leigh gene: PAPLN was added
gene: PAPLN was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PAPLN was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PAPLN were set to 27835649; 30794780
Genomic imprinting v0.23 PAK1 Sarah Leigh gene: PAK1 was added
gene: PAK1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PAK1 were set to 27835649; 30794780
Genomic imprinting v0.23 OVCH2 Sarah Leigh gene: OVCH2 was added
gene: OVCH2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: OVCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: OVCH2 were set to 30794780; 27843122
Genomic imprinting v0.23 OPCML Sarah Leigh gene: OPCML was added
gene: OPCML was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: OPCML was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: OPCML were set to 27835649; 30794780
Genomic imprinting v0.23 NTM Sarah Leigh gene: NTM was added
gene: NTM was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: NTM was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: NTM were set to http://www.geneimprint.com/site/genes-by-species.Homo+sapiens; 30794780
Genomic imprinting v0.23 NAV2 Sarah Leigh gene: NAV2 was added
gene: NAV2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: NAV2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: NAV2 were set to 30794780; 26769960
Genomic imprinting v0.23 N4BP2L1 Sarah Leigh gene: N4BP2L1 was added
gene: N4BP2L1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: N4BP2L1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: N4BP2L1 were set to 30794780; 24402520
Genomic imprinting v0.23 MKRN3 Sarah Leigh Source Literature was added to MKRN3.
Publications for gene MKRN3 were updated from PMID: 23738509 to 30794780; PMID: 23738509; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 MIR675 Sarah Leigh gene: MIR675 was added
gene: MIR675 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MIR675 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MIR675 were set to 30794780; 26769960; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 MIR483 Sarah Leigh gene: MIR483 was added
gene: MIR483 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MIR483 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MIR483 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 MIR337 Sarah Leigh gene: MIR337 was added
gene: MIR337 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MIR337 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MIR337 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 MIR134 Sarah Leigh gene: MIR134 was added
gene: MIR134 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MIR134 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MIR134 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 MEG8 Sarah Leigh gene: MEG8 was added
gene: MEG8 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MEG8 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MEG8 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 MEG3 Sarah Leigh gene: MEG3 was added
gene: MEG3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MEG3 were set to 30794780; 18271756; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 MAPK8IP1 Sarah Leigh gene: MAPK8IP1 was added
gene: MAPK8IP1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MAPK8IP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP1 were set to 30794780; 26769960
Genomic imprinting v0.23 MAGEL2 Sarah Leigh Source Literature was added to MAGEL2.
Publications for gene MAGEL2 were updated from to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 LPAR6 Sarah Leigh gene: LPAR6 was added
gene: LPAR6 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: LPAR6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LPAR6 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 LINC00294 Sarah Leigh gene: LINC00294 was added
gene: LINC00294 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: LINC00294 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: LINC00294 were set to 30794780; 27843122
Genomic imprinting v0.23 KLHL1 Sarah Leigh gene: KLHL1 was added
gene: KLHL1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: KLHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: KLHL1 were set to 30794780; 26769960; 24402520
Genomic imprinting v0.23 KCNQ1OT1 Sarah Leigh Source Literature was added to KCNQ1OT1.
Mode of inheritance for gene KCNQ1OT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene KCNQ1OT1 were updated from PMID: 15372379; 22205991; 23511928 to 23511928; PMID: 15372379; 30794780; http://igc.otago.ac.nz/home.html; 22205991
Genomic imprinting v0.23 KCNQ1DN Sarah Leigh gene: KCNQ1DN was added
gene: KCNQ1DN was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: KCNQ1DN was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KCNQ1DN were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 KCNQ1 Sarah Leigh gene: KCNQ1 was added
gene: KCNQ1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KCNQ1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 IRF7 Sarah Leigh gene: IRF7 was added
gene: IRF7 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: IRF7 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IRF7 were set to 30794780; 27843122
Genomic imprinting v0.23 INS Sarah Leigh gene: INS was added
gene: INS was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: INS were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 INPP5F Sarah Leigh gene: INPP5F was added
gene: INPP5F was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: INPP5F was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: INPP5F were set to 17291163; 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 IGF2-AS Sarah Leigh gene: IGF2-AS was added
gene: IGF2-AS was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: IGF2-AS was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2-AS were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 IGF2 Sarah Leigh Source Literature was added to IGF2.
Publications for gene IGF2 were updated from PMID: 26154720 to PMID: 26154720; 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 FGF14 Sarah Leigh gene: FGF14 was added
gene: FGF14 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: FGF14 were set to 27835649; 30794780
Genomic imprinting v0.23 DLK1 Sarah Leigh gene: DLK1 was added
gene: DLK1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: DLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: DLK1 were set to 30794780; 18271756; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 DLEU7 Sarah Leigh gene: DLEU7 was added
gene: DLEU7 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: DLEU7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLEU7 were set to 30794780; 26769960
Genomic imprinting v0.23 CPXM2 Sarah Leigh gene: CPXM2 was added
gene: CPXM2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CPXM2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CPXM2 were set to 30794780; 27843122
Genomic imprinting v0.23 CDKN1C Sarah Leigh Source Literature was added to CDKN1C.
Publications for gene CDKN1C were updated from PMID: 8841187; 20503313; 10424811; [15372379; 19843502; 23511928; 22205991] to 23511928; 20503313; 22205991]; 10424811; 19843502; 30794780; PMID: 8841187; [15372379; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 CACNA1C Sarah Leigh gene: CACNA1C was added
gene: CACNA1C was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CACNA1C were set to 27835649; 30794780
Genomic imprinting v0.23 ART5 Sarah Leigh gene: ART5 was added
gene: ART5 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ART5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ART5 were set to 30794780; 26769960
Genomic imprinting v0.23 ANO1 Sarah Leigh gene: ANO1 was added
gene: ANO1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: ANO1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.23 ALKBH3 Sarah Leigh gene: ALKBH3 was added
gene: ALKBH3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ALKBH3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: ALKBH3 were set to 30794780; 27843122
Genomic imprinting v0.23 ACCS Sarah Leigh gene: ACCS was added
gene: ACCS was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ACCS was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ACCS were set to 30794780; 27843122
Genomic imprinting v0.22 USMG5 Sarah Leigh commented on gene: USMG5
Genomic imprinting v0.22 USMG5 Sarah Leigh Tag new-gene-name tag was added to gene: USMG5.
Genomic imprinting v0.22 ZFAT-AS1 Sarah Leigh gene: ZFAT-AS1 was added
gene: ZFAT-AS1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZFAT-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZFAT-AS1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 ZFAT Sarah Leigh gene: ZFAT was added
gene: ZFAT was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZFAT was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZFAT were set to 30794780; 24402520
Genomic imprinting v0.22 TRAPPC9 Sarah Leigh gene: TRAPPC9 was added
gene: TRAPPC9 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: TRAPPC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAPPC9 were set to 25953952; 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 THSD7A Sarah Leigh gene: THSD7A was added
gene: THSD7A was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: THSD7A was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: THSD7A were set to 30794780; 27843122
Genomic imprinting v0.22 TFPI2 Sarah Leigh gene: TFPI2 was added
gene: TFPI2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: TFPI2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: TFPI2 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 SLC22A3 Sarah Leigh gene: SLC22A3 was added
gene: SLC22A3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SLC22A3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: SLC22A3 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 SLC22A2 Sarah Leigh gene: SLC22A2 was added
gene: SLC22A2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SLC22A2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: SLC22A2 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 SGCE Sarah Leigh Source Literature was added to SGCE.
Publications for gene SGCE were updated from PMID: 25209853; 23237735; 23365103 to 30794780; PMID: 25209853; 23365103; 23237735; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 SCIN Sarah Leigh gene: SCIN was added
gene: SCIN was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SCIN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCIN were set to 30794780; 26769960
Genomic imprinting v0.22 RAPGEF5 Sarah Leigh gene: RAPGEF5 was added
gene: RAPGEF5 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RAPGEF5 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: RAPGEF5 were set to 30794780; 26769960
Genomic imprinting v0.22 R3HCC1 Sarah Leigh gene: R3HCC1 was added
gene: R3HCC1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: R3HCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: R3HCC1 were set to 30794780; 27835649; 27843122
Genomic imprinting v0.22 PTK2B Sarah Leigh gene: PTK2B was added
gene: PTK2B was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PTK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTK2B were set to 30794780; 26769960
Genomic imprinting v0.22 PTCHD3 Sarah Leigh gene: PTCHD3 was added
gene: PTCHD3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PTCHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTCHD3 were set to 30794780; 26769960
Genomic imprinting v0.22 PSCA Sarah Leigh gene: PSCA was added
gene: PSCA was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PSCA was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: PSCA were set to 25953952; 30794780; 27843122
Genomic imprinting v0.22 PROSER2-AS1 Sarah Leigh gene: PROSER2-AS1 was added
gene: PROSER2-AS1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PROSER2-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PROSER2-AS1 were set to 30794780; 26769960; 27843122
Genomic imprinting v0.22 PROSER2 Sarah Leigh gene: PROSER2 was added
gene: PROSER2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PROSER2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: PROSER2 were set to 30794780; 27843122
Genomic imprinting v0.22 PRKAG2 Sarah Leigh gene: PRKAG2 was added
gene: PRKAG2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PRKAG2 were set to 30794780; 27843122
Genomic imprinting v0.22 PLG Sarah Leigh gene: PLG was added
gene: PLG was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PLG was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PLG were set to 30794780; 26769960
Genomic imprinting v0.22 PLAGL1 Sarah Leigh gene: PLAGL1 was added
gene: PLAGL1 was added to Imprinted Genes. Sources: 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 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 PKIA Sarah Leigh gene: PKIA was added
gene: PKIA was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PKIA was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PKIA were set to 30794780; 27843122
Genomic imprinting v0.22 PHACTR2 Sarah Leigh gene: PHACTR2 was added
gene: PHACTR2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PHACTR2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: PHACTR2 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 PGM5P3-AS1 Sarah Leigh gene: PGM5P3-AS1 was added
gene: PGM5P3-AS1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PGM5P3-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PGM5P3-AS1 were set to 30794780; 26769960
Genomic imprinting v0.22 PEG13 Sarah Leigh gene: PEG13 was added
gene: PEG13 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PEG13 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PEG13 were set to 30794780; http://www.geneimprint.com/site/genes-by-species.Homo+sapiens
Genomic imprinting v0.22 PEG10 Sarah Leigh gene: PEG10 was added
gene: PEG10 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PEG10 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PEG10 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 PDK4 Sarah Leigh gene: PDK4 was added
gene: PDK4 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: PDK4 were set to 30794780; 27843122
Genomic imprinting v0.22 NAPRT Sarah Leigh gene: NAPRT was added
gene: NAPRT was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: NAPRT was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: NAPRT were set to 30794780
Genomic imprinting v0.22 MEST Sarah Leigh gene: MEST was added
gene: MEST was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MEST was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MEST were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 LIN28B Sarah Leigh gene: LIN28B was added
gene: LIN28B was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: LIN28B was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: LIN28B were set to 30794780; http://igc.otago.ac.nz/home.html; 24402520
Genomic imprinting v0.22 KLHDC10 Sarah Leigh gene: KLHDC10 was added
gene: KLHDC10 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: KLHDC10 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KLHDC10 were set to 30794780; 27843122
Genomic imprinting v0.22 KLF14 Sarah Leigh gene: KLF14 was added
gene: KLF14 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: KLF14 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KLF14 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 KIF25 Sarah Leigh gene: KIF25 was added
gene: KIF25 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: KIF25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF25 were set to 25953952; 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 KCNK9 Sarah Leigh Source Literature was added to KCNK9.
Publications for gene KCNK9 were updated from PMID: 24667089; 18678320 to 30794780; PMID: 24667089; http://igc.otago.ac.nz/home.html; 18678320
Genomic imprinting v0.22 JMJD1C Sarah Leigh gene: JMJD1C was added
gene: JMJD1C was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: JMJD1C were set to 30794780; 27835649
Genomic imprinting v0.22 ITGA8 Sarah Leigh gene: ITGA8 was added
gene: ITGA8 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ITGA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ITGA8 were set to 30794780; 26769960
Genomic imprinting v0.22 HYMAI Sarah Leigh gene: HYMAI was added
gene: HYMAI was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: HYMAI was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: HYMAI were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 GRB10 Sarah Leigh gene: GRB10 was added
gene: GRB10 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: GRB10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRB10 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 GLIS3 Sarah Leigh gene: GLIS3 was added
gene: GLIS3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: GLIS3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: GLIS3 were set to http://igc.otago.ac.nz/home.html; 30794780; 26769960; 24402520
Genomic imprinting v0.22 FAM50B Sarah Leigh gene: FAM50B was added
gene: FAM50B was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: FAM50B was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: FAM50B were set to 30794780; http://igc.otago.ac.nz/home.html; 21421564
Genomic imprinting v0.22 EXD3 Sarah Leigh gene: EXD3 was added
gene: EXD3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: EXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: EXD3 were set to 30794780; 26769960
Genomic imprinting v0.22 DLGAP2 Sarah Leigh gene: DLGAP2 was added
gene: DLGAP2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: DLGAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: DLGAP2 were set to 30794780; 27835649; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 DENND3 Sarah Leigh gene: DENND3 was added
gene: DENND3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: DENND3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: DENND3 were set to 30794780
Genomic imprinting v0.22 CRYBG1 Sarah Leigh gene: CRYBG1 was added
gene: CRYBG1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CRYBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CRYBG1 were set to 30794780; http://igc.otago.ac.nz/home.html; 24402520
Genomic imprinting v0.22 CPA4 Sarah Leigh gene: CPA4 was added
gene: CPA4 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CPA4 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CPA4 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 CLDN23 Sarah Leigh gene: CLDN23 was added
gene: CLDN23 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CLDN23 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CLDN23 were set to 30794780; 27843122
Genomic imprinting v0.22 CALCR Sarah Leigh gene: CALCR was added
gene: CALCR was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CALCR was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CALCR were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.22 USMG5 Sarah Leigh gene: USMG5 was added
gene: USMG5 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: USMG5 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: USMG5 were set to 30794780; 27843122
Genomic imprinting v0.22 AIFM2 Sarah Leigh gene: AIFM2 was added
gene: AIFM2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: AIFM2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: AIFM2 were set to 30794780; 27843122
Genomic imprinting v0.22 AGBL3 Sarah Leigh gene: AGBL3 was added
gene: AGBL3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: AGBL3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: AGBL3 were set to 30794780; 26769960
Genomic imprinting v0.21 ZNF385D Sarah Leigh gene: ZNF385D was added
gene: ZNF385D was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZNF385D was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZNF385D were set to 27835649; 30794780
Genomic imprinting v0.21 ZNF354C Sarah Leigh gene: ZNF354C was added
gene: ZNF354C was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZNF354C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZNF354C were set to 30794780; 26769960
Genomic imprinting v0.21 ZDBF2 Sarah Leigh gene: ZDBF2 was added
gene: ZDBF2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ZDBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ZDBF2 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.21 VTRNA2-1 Sarah Leigh gene: VTRNA2-1 was added
gene: VTRNA2-1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: VTRNA2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: VTRNA2-1 were set to http://www.geneimprint.com/site/genes-by-species.Homo+sapiens; 30794780
Genomic imprinting v0.21 UTS2 Sarah Leigh gene: UTS2 was added
gene: UTS2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: UTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: UTS2 were set to 30794780; 25953952
Genomic imprinting v0.21 USP4 Sarah Leigh gene: USP4 was added
gene: USP4 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: USP4 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: USP4 were set to 27835649; 30794780
Genomic imprinting v0.21 TMEM247 Sarah Leigh gene: TMEM247 was added
gene: TMEM247 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: TMEM247 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: TMEM247 were set to 27835649; 30794780; 27843122
Genomic imprinting v0.21 THUMPD2 Sarah Leigh gene: THUMPD2 was added
gene: THUMPD2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: THUMPD2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: THUMPD2 were set to 30794780; 27843122
Genomic imprinting v0.21 THAP3 Sarah Leigh gene: THAP3 was added
gene: THAP3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: THAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: THAP3 were set to 30794780; 26769960
Genomic imprinting v0.21 STX18-AS1 Sarah Leigh gene: STX18-AS1 was added
gene: STX18-AS1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: STX18-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: STX18-AS1 were set to 27835649; 30794780
Genomic imprinting v0.21 SPHKAP Sarah Leigh gene: SPHKAP was added
gene: SPHKAP was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SPHKAP was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SPHKAP were set to 27835649; 30794780
Genomic imprinting v0.21 SLC4A7 Sarah Leigh gene: SLC4A7 was added
gene: SLC4A7 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SLC4A7 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SLC4A7 were set to 30794780; 27843122
Genomic imprinting v0.21 SH3BP2 Sarah Leigh gene: SH3BP2 was added
gene: SH3BP2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SH3BP2 were set to 27835649; 30794780
Genomic imprinting v0.21 SFRP2 Sarah Leigh gene: SFRP2 was added
gene: SFRP2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: SFRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SFRP2 were set to 27835649; 30794780
Genomic imprinting v0.21 RNU5D-1 Sarah Leigh gene: RNU5D-1 was added
gene: RNU5D-1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RNU5D-1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: RNU5D-1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.21 RNF144B Sarah Leigh gene: RNF144B was added
gene: RNF144B was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RNF144B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNF144B were set to 30794780; 26769960
Genomic imprinting v0.21 RHOBTB3 Sarah Leigh gene: RHOBTB3 was added
gene: RHOBTB3 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RHOBTB3 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: RHOBTB3 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.21 RAB7A Sarah Leigh gene: RAB7A was added
gene: RAB7A was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB7A were set to 30794780; 26769960
Genomic imprinting v0.21 PLEKHG4B Sarah Leigh gene: PLEKHG4B was added
gene: PLEKHG4B was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PLEKHG4B was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PLEKHG4B were set to 30794780; 27843122
Genomic imprinting v0.21 PDE6B Sarah Leigh gene: PDE6B was added
gene: PDE6B was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PDE6B was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PDE6B were set to 27835649; 30794780
Genomic imprinting v0.21 PAX8-AS1 Sarah Leigh gene: PAX8-AS1 was added
gene: PAX8-AS1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PAX8-AS1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PAX8-AS1 were set to 25848752; 30794780
Genomic imprinting v0.21 PAX8 Sarah Leigh gene: PAX8 was added
gene: PAX8 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: PAX8 were set to 25848752; 30794780
Genomic imprinting v0.21 NUDT12 Sarah Leigh gene: NUDT12 was added
gene: NUDT12 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: NUDT12 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: NUDT12 were set to 30794780; 27843122
Genomic imprinting v0.21 NAP1L5 Sarah Leigh gene: NAP1L5 was added
gene: NAP1L5 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: NAP1L5 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: NAP1L5 were set to 30794780; 26769960; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.21 MRPL44 Sarah Leigh gene: MRPL44 was added
gene: MRPL44 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MRPL44 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: MRPL44 were set to 30794780; 27843122
Genomic imprinting v0.21 MOCS1 Sarah Leigh gene: MOCS1 was added
gene: MOCS1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MOCS1 were set to 27835649; 30794780
Genomic imprinting v0.21 MELTF Sarah Leigh gene: MELTF was added
gene: MELTF was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MELTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MELTF were set to 30794780; 26769960
Genomic imprinting v0.21 MDGA1 Sarah Leigh gene: MDGA1 was added
gene: MDGA1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MDGA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MDGA1 were set to 30794780; 26769960
Genomic imprinting v0.21 MCCC1 Sarah Leigh gene: MCCC1 was added
gene: MCCC1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: MCCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MCCC1 were set to 30794780; 24402520
Genomic imprinting v0.21 LRRTM1 Sarah Leigh gene: LRRTM1 was added
gene: LRRTM1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: LRRTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: LRRTM1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.21 LINC00467 Sarah Leigh gene: LINC00467 was added
gene: LINC00467 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: LINC00467 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: LINC00467 were set to 30794780; 26769960
Genomic imprinting v0.21 IL12RB2 Sarah Leigh gene: IL12RB2 was added
gene: IL12RB2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: IL12RB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IL12RB2 were set to 30794780; 26769960
Genomic imprinting v0.21 ICA1L Sarah Leigh gene: ICA1L was added
gene: ICA1L was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ICA1L was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: ICA1L were set to 30794780; 27843122
Genomic imprinting v0.21 GRID2 Sarah Leigh gene: GRID2 was added
gene: GRID2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: GRID2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: GRID2 were set to 27835649; 30794780
Genomic imprinting v0.21 GPR78 Sarah Leigh gene: GPR78 was added
gene: GPR78 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: GPR78 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: GPR78 were set to 27835649; 30794780
Genomic imprinting v0.21 GPR1 Sarah Leigh gene: GPR1 was added
gene: GPR1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: GPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: GPR1 were set to 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.21 FRG1 Sarah Leigh gene: FRG1 was added
gene: FRG1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: FRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: FRG1 were set to 25848752; 30794780
Genomic imprinting v0.21 FGF12 Sarah Leigh gene: FGF12 was added
gene: FGF12 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: FGF12 were set to 27835649; 30794780
Genomic imprinting v0.21 FAM149A Sarah Leigh gene: FAM149A was added
gene: FAM149A was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: FAM149A was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: FAM149A were set to 27835649; 30794780; 27843122
Genomic imprinting v0.21 EFCC1 Sarah Leigh gene: EFCC1 was added
gene: EFCC1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: EFCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: EFCC1 were set to 27835649; 30794780
Genomic imprinting v0.21 DNAH7 Sarah Leigh gene: DNAH7 was added
gene: DNAH7 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: DNAH7 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: DNAH7 were set to 30794780; 26769960
Genomic imprinting v0.21 DIRAS3 Sarah Leigh Publications for gene DIRAS3 were updated from 15546898 to 15546898; 30794780; http://igc.otago.ac.nz/home.html
Genomic imprinting v0.21 CYP2J2 Sarah Leigh gene: CYP2J2 was added
gene: CYP2J2 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CYP2J2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CYP2J2 were set to 30794780; 27843122
Genomic imprinting v0.21 CUL7 Sarah Leigh gene: CUL7 was added
gene: CUL7 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CUL7 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CUL7 were set to 30794780; 27843122
Genomic imprinting v0.21 CD83 Sarah Leigh gene: CD83 was added
gene: CD83 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CD83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CD83 were set to 30794780; 26769960
Genomic imprinting v0.21 CACNA1E Sarah Leigh gene: CACNA1E was added
gene: CACNA1E was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: CACNA1E were set to 27835649; 30794780
Genomic imprinting v0.21 C6orf47 Sarah Leigh gene: C6orf47 was added
gene: C6orf47 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: C6orf47 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: C6orf47 were set to 30794780; 26769960
Genomic imprinting v0.21 AGO1 Sarah Leigh gene: AGO1 was added
gene: AGO1 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: AGO1 were set to 27835649; 30794780; 27843122
Genomic imprinting v0.21 ACOT11 Sarah Leigh gene: ACOT11 was added
gene: ACOT11 was added to Imprinted Genes. Sources: Literature
Mode of inheritance for gene: ACOT11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACOT11 were set to 30794780; 26769960
Genomic imprinting v0.20 Sarah Leigh List of related panels changed from to
Panel status changed from internal to public
Genomic imprinting DIRAS3 Sarah Leigh added DIRAS3 to panel
Genomic imprinting DIRAS3 Sarah Leigh reviewed DIRAS3
Genomic imprinting TBX5 Rebecca Foulger classified TBX5 as grey
Genomic imprinting TBX5 Rebecca Foulger commented on TBX5
Genomic imprinting L3MBTL1 Ellen McDonagh classified L3MBTL1 as green
Genomic imprinting KCNK9 Ellen McDonagh classified KCNK9 as green
Genomic imprinting SGCE Ellen McDonagh classified SGCE as green
Genomic imprinting GNAS Ellen McDonagh classified GNAS as green
Genomic imprinting MKRN3 Ellen McDonagh classified MKRN3 as green
Genomic imprinting UBE3A Ellen McDonagh classified UBE3A as green
Genomic imprinting IGF2 Ellen McDonagh classified IGF2 as green
Genomic imprinting H19 Ellen McDonagh classified H19 as green
Genomic imprinting KCNQ1OT1 Ellen McDonagh classified KCNQ1OT1 as green
Genomic imprinting CDKN1C Ellen McDonagh classified CDKN1C as green
Genomic imprinting UBE3A Ellen McDonagh edited their review of UBE3A
Genomic imprinting UBE3A Ellen McDonagh edited their review of UBE3A
Genomic imprinting UBE3A Ellen McDonagh edited their review of UBE3A
Genomic imprinting SGCE Ellen McDonagh edited their review of SGCE
Genomic imprinting SGCE Ellen McDonagh edited their review of SGCE
Genomic imprinting SGCE Ellen McDonagh edited their review of SGCE
Genomic imprinting SGCE Ellen McDonagh edited their review of SGCE
Genomic imprinting SDHD Ellen McDonagh edited their review of SDHD
Genomic imprinting SDHD Ellen McDonagh edited their review of SDHD
Genomic imprinting SDHD Ellen McDonagh edited their review of SDHD
Genomic imprinting IGF2 Ellen McDonagh edited their review of IGF2
Genomic imprinting IGF2 Ellen McDonagh edited their review of IGF2
Genomic imprinting IGF2 Ellen McDonagh edited their review of IGF2
Genomic imprinting GNAS Ellen McDonagh edited their review of GNAS
Genomic imprinting GNAS Ellen McDonagh edited their review of GNAS
Genomic imprinting EZH2 Ellen McDonagh edited their review of EZH2
Genomic imprinting EZH2 Ellen McDonagh edited their review of EZH2
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting UBE3A Ellen McDonagh edited their review of UBE3A
Genomic imprinting UBE3A Ellen McDonagh edited their review of UBE3A
Genomic imprinting UBE3A Ellen McDonagh edited their review of UBE3A
Genomic imprinting TBX5 Ellen McDonagh reviewed TBX5
Genomic imprinting SIX3 Ellen McDonagh reviewed SIX3
Genomic imprinting SGCE Ellen McDonagh edited their review of SGCE
Genomic imprinting SGCE Ellen McDonagh edited their review of SGCE
Genomic imprinting SGCE Ellen McDonagh edited their review of SGCE
Genomic imprinting SGCE Ellen McDonagh edited their review of SGCE
Genomic imprinting SDHD Ellen McDonagh edited their review of SDHD
Genomic imprinting SDHD Ellen McDonagh edited their review of SDHD
Genomic imprinting SDHD Ellen McDonagh reviewed SDHD
Genomic imprinting NOTCH1 Ellen McDonagh reviewed NOTCH1
Genomic imprinting NDN Ellen McDonagh reviewed NDN
Genomic imprinting MYH6 Ellen McDonagh reviewed MYH6
Genomic imprinting MAGEL2 Ellen McDonagh reviewed MAGEL2
Genomic imprinting IGF2 Ellen McDonagh edited their review of IGF2
Genomic imprinting IGF2 Ellen McDonagh edited their review of IGF2
Genomic imprinting IGF2 Ellen McDonagh edited their review of IGF2
Genomic imprinting H19 Ellen McDonagh edited their review of H19
Genomic imprinting GNAS Ellen McDonagh edited their review of GNAS
Genomic imprinting GNAS Ellen McDonagh edited their review of GNAS
Genomic imprinting EZH2 Ellen McDonagh edited their review of EZH2
Genomic imprinting EZH2 Ellen McDonagh reviewed EZH2
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting Ellen McDonagh reviewed *
Genomic imprinting CDKN1C Ellen McDonagh edited their review of CDKN1C
Genomic imprinting KHDC3L Ellen McDonagh reviewed KHDC3L
Genomic imprinting NLRP5 Ellen McDonagh reviewed NLRP5
Genomic imprinting NLRP2 Ellen McDonagh reviewed NLRP2
Genomic imprinting NLRP7 Ellen McDonagh reviewed NLRP7
Genomic imprinting ZFP57 Ellen McDonagh reviewed ZFP57
Genomic imprinting L3MBTL Ellen McDonagh reviewed L3MBTL*
Genomic imprinting KCNK9 Ellen McDonagh reviewed KCNK9
Genomic imprinting SGCE Ellen McDonagh reviewed SGCE
Genomic imprinting GNAS Ellen McDonagh reviewed GNAS
Genomic imprinting MKRN3 Ellen McDonagh reviewed MKRN3
Genomic imprinting UBE3A Ellen McDonagh reviewed UBE3A
Genomic imprinting IGF2 Ellen McDonagh reviewed IGF2
Genomic imprinting H19 Ellen McDonagh reviewed H19
Genomic imprinting KCNQ1OT1 Ellen McDonagh reviewed KCNQ1OT1
Genomic imprinting CDKN1C Ellen McDonagh reviewed CDKN1C
Genomic imprinting NDN Sarah Leigh added NDN to panel
Genomic imprinting NDN Sarah Leigh reviewed NDN