Genomic imprinting (Version 0.149)

Description

This is a research gene panel that includes genes that are subject to genetic imprinting and also those that are associated with the regulation or modification of the gene imprinting process.
Such genes may be associated with disease when variants result in either loss-of-function alleles or gain-of-function alleles.
The initial list of imprinted genes on this panel was originally compiled from feedback from the Imprinting Disorders, Genomics England Clinical Interpretation Partnership (GeCIP) Subdomain (November 2015). Genes within PanelApp that had an imprinted mode of inheritance assignment were also added (4th May 2017). The panel has been expanded by the inclusion of curated human genes from “Genomic Imprinting and Physiological Processes in Mammals” Tucci et al (Table S1)(PMID: 30794780)(22nd Dec 2020).

We would welcome gene reviews by experts in the field of Genetic Imprinted conditions, for guidance go to: https://panelapp.genomicsengland.co.uk/#!Guidelines

This gene panel is for research use only and not for use in the diagnostic procedures.

Panel Activity

5 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

230 Entities

129 reviewed, 23 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 230 Entitiess
Green Green List (high evidence)	CDKN1C	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Imprinting GeCIP Subdomain Literature Phenotypes Phenotypes resulting from gene over expression: IMAGE syndrome Silver-Russell Syndrome Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome Affected tissue: all Tags
Green Green List (high evidence)	GNAS	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Imprinting GeCIP Subdomain Literature Phenotypes Pseudohypoparathyroidism Ia, OMIM:103580 Pseudohypoparathyroidism Ib, OMIM:603233 Pseudohypoparathyroidism Ic, OMIM:612462 Tags
Green Green List (high evidence)	GRB10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Literature Phenotypes Silver-Russell syndrome 2, OMIM:618905 Tags
Green Green List (high evidence)	H19	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Imprinting GeCIP Subdomain Phenotypes Silver-Russell syndrome, OMIM:180860 Wilms tumor 2, OMIM:194071 Beckwith-Wiedemann syndrome, OMIM:130650 Tags
Green Green List (high evidence)	IGF2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Imprinting GeCIP Subdomain Literature Phenotypes Phenotypes resulting from gene over expression: Beckwith-Wiedemann Syndrome (proven effects of dosage alteration rather than gene muation). Phenotype resulting from under expression: Silver-Russell Syndrome Affected tissue: all Tags
Green Green List (high evidence)	KCNK9	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Imprinting GeCIP Subdomain Literature Phenotypes Birk-Barel syndrome Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism Affected tissue: brain Tags
Green Green List (high evidence)	KCNQ1	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Literature Phenotypes Short QT syndrome 2, OMIM:609621 Long QT syndrome-1, OMIM:192500 Atrial fibrillation, familial, 3, OMIM:607554 Tags
Green Green List (high evidence)	KCNQ1OT1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Imprinting GeCIP Subdomain Literature Phenotypes Beckwith-Wiedemann syndrome OMIM:130650 Tags locus-type-rna-long-non-coding
Green Green List (high evidence)	KHDC3L	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Imprinting GeCIP Subdomain Phenotypes Hydatidiform mole, recurrent, 2 OMIM:614293 hydatidiform mole, recurrent, 2 MONDO:0013671 Tags
Green Green List (high evidence)	L3MBTL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Imprinting GeCIP Subdomain Literature Phenotypes Phenotype resulting from under expression: lymphoid malignancy Affected tissue: myeloid lineages Tags
Green Green List (high evidence)	MAGEL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Literature PanelApp Phenotypes Schaaf-Yang syndrome, OMIM:615547 Schaaf-Yang syndrome, MONDO:0014243 Tags
Green Green List (high evidence)	MEG3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Literature Phenotypes Temple syndrome, OMIM:616222 Kagami-Ogata syndrome, OMIM:608149 Tags
Green Green List (high evidence)	MEST	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Literature Phenotypes Silver-Russell syndrome 2, OMIM:618905 Tags
Green Green List (high evidence)	MKRN3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Imprinting GeCIP Subdomain Literature Phenotypes Phenotype resulting from under expression: Precocious Puberty Syndrome Affected tissue: HPA axis Tags
Green Green List (high evidence)	NLRP2	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Imprinting GeCIP Subdomain Phenotypes Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475 Tags watchlist
Green Green List (high evidence)	NLRP5	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Imprinting GeCIP Subdomain Phenotypes Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder Affected tissue: all Tags
Green Green List (high evidence)	NLRP7	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Imprinting GeCIP Subdomain Phenotypes 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 Tags
Green Green List (high evidence)	PADI6	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Preimplantation embryonic lethality 2 OMIM:617234 preimplantation embryonic lethality 2 MONDO:0014978 Beckwith-Wiedemann syndrome Multi Locus Imprinting Disturbance Tags
Green Green List (high evidence)	PLAGL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Literature Phenotypes {Diabetes mellitus, transient neonatal 1} , OMIM:601410 Tags
Green Green List (high evidence)	SGCE	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Imprinting GeCIP Subdomain Literature Phenotypes Phenotype resulting from under expression: upper body myoclonus, dystonia Affected tissue: brain Tags
Green Green List (high evidence)	SNRPN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Literature Phenotypes Prader-Willi syndrome, OMIM:176270 Tags
Green Green List (high evidence)	UBE3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Imprinting GeCIP Subdomain Literature Phenotypes Phenotype resulting from under expression: Angelman Syndrome Affected tissue: brain Tags
Green Green List (high evidence)	ZFP57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Imprinting GeCIP Subdomain Phenotypes Diabetes mellitus, transient neonatal 1 OMIM:601410 diabetes mellitus, transient neonatal, 1MONDO:0011073 IUGR Multi Locus Imprinting Disturbance Tags
Amber Amber List (moderate evidence)	PEG3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Amber Literature Phenotypes dysmorphic features developmental delay Tags
Red Red List (low evidence)	ACCS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ACOT11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	ACTL10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	AGBL3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	AGO1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	AIFM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ALKBH3	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ANO1	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ANO8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ART5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	ARVCF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	AXL	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	BLCAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	C6orf47	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CACNA1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CACNA1C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CACNA1E	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CACNA1I	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CALCR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CBR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CD83	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	CLDN23	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CLEC3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	CPA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CPXM2	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CRYBG1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CST1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	CUL7	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	CYP24A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	CYP2J2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	DENND3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	DIRAS3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Phenotypes follicular thyroid carcinoma Tags
Red Red List (low evidence)	DLEU7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	DLGAP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	DLK1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	DNAH7	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	DNM1P35	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	DNMT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	EFCC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	EXD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	EZH2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PanelApp Phenotypes Weaver syndrome OMIM:277590 Tags
Red Red List (low evidence)	FAM149A	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	FAM174B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	FAM50B	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	FDX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	FGF12	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	FGF14	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	FRG1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	GDAP1L1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	GLIS3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	GNAS-AS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	GNG7	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	GPR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	GPR1-AS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	GPR78	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	GRID2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	HYMAI	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing
Red Red List (low evidence)	ICA1L	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ICAM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	IGF2-AS	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	IL12RB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	INPP5F	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	INS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	IRAIN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing locus-type-rna-long-non-coding
Red Red List (low evidence)	IRF7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ITGA8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	JMJD1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	KCNQ1DN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	KIF25	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	KLF14	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing
Red Red List (low evidence)	KLHDC10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	KLHL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	LIN28B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	LINC00294	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing locus-type-rna-long-non-coding
Red Red List (low evidence)	LINC00467	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	LPAR6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	LRRK1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	LRRTM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	MAPK8IP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	MCCC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	MCTS2P	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	MDGA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	MEG8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	MELTF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	MESTIT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing locus-type-rna-long-non-coding
Red Red List (low evidence)	MIMT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	MIR134	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags locus-type-rna-micro
Red Red List (low evidence)	MIR296	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing locus-type-rna-micro
Red Red List (low evidence)	MIR298	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-micro
Red Red List (low evidence)	MIR337	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags locus-type-rna-micro
Red Red List (low evidence)	MIR373	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-micro
Red Red List (low evidence)	MIR483	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-micro
Red Red List (low evidence)	MIR512-1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-micro
Red Red List (low evidence)	MIR675	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing locus-type-rna-micro
Red Red List (low evidence)	MOCS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	MRPL44	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	N4BP2L1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	NAA60	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	NAP1L5	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	NAPRT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	NAV2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	NDN	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Phenotypes Smith-Magenis-like syndrome Prader-Willi syndrome 176270 Tags
Red Red List (low evidence)	NLGN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	NNAT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	NOTCH1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PanelApp Phenotypes From the Familial non syndromic congenital heart disease gene panel Tags
Red Red List (low evidence)	NPAP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	NTM	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	NUDT12	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	OPCML	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	OVCH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PAK1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PAPLN	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PAX8	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PAX8-AS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	PCK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PDE6B	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PDK4	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PDPR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PEG10	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PEG13	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing
Red Red List (low evidence)	PGM5P3-AS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags ensembl_ids_known_missing locus-type-rna-long-non-coding
Red Red List (low evidence)	PHACTR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PHLDA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PKIA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PLEKHG4B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PLG	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PRKAG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PRMT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PROSER2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PROSER2-AS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	PSCA	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	PTCHD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	PTK2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	PWRN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	R3HCC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	RAB7A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	RAPGEF5	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	RASGRF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	RB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	RHOBTB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	RNF141	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	RNF144B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	RNU5D-1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-small-nuclear
Red Red List (low evidence)	RTL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	RYR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	S1PR2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SCIN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	SDHD	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources PanelApp Phenotypes From the Multiple endocrine tumours gene panel Tags
Red Red List (low evidence)	SEPT4	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags new-gene-name
Red Red List (low evidence)	SFRP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SGK2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SH3BP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SIAH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	SIX3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red PanelApp Phenotypes Holoprosencephaly 2 OMIM:157170 Tags
Red Red List (low evidence)	SLC22A18	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SLC22A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SLC22A3	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SLC4A7	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SLC9A7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SNHG14	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SNORD107	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing locus-type-rna-small-nuclear
Red Red List (low evidence)	SNORD108	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-small-nuclear
Red Red List (low evidence)	SNORD109A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing locus-type-rna-small-nuclear
Red Red List (low evidence)	SNORD109B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-small-nuclear
Red Red List (low evidence)	SNORD115-1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-small-nuclear
Red Red List (low evidence)	SNORD116-1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-small-nuclear
Red Red List (low evidence)	SNORD64	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing locus-type-rna-small-nuclear
Red Red List (low evidence)	SNU13	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SNURF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SPA17	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	SPHKAP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	STX16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Pseudohypoparathyroidism, type IB OMIM:603233 pseudohypoparathyroidism type 1B:MONDO:0011301 Tags
Red Red List (low evidence)	STX18-AS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	TFPI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	THAP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	THSD7A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	THUMPD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	TIGAR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	TMEM247	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags ensembl_ids_known_missing
Red Red List (low evidence)	TPTEP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	TRAPPC9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	USMG5	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags new-gene-name
Red Red List (low evidence)	USP4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	UTS2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	VSTM5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	VTRNA2-1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-vault
Red Red List (low evidence)	VWA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	WIF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	WT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	WT1-AS	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	ZC3H12C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZDBF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZFAT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZFAT-AS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags locus-type-rna-long-non-coding
Red Red List (low evidence)	ZFP90	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZHX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZIM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZNF215	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZNF331	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZNF354C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Tags
Red Red List (low evidence)	ZNF385D	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZNF542P	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZNF597	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZNF714	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
Red Red List (low evidence)	ZNF833P	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Tags
No list No list	TBX5	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed PanelApp Phenotypes From the Familial non syndromic congenital heart disease gene panel Tags curated_removed

Genomic imprinting (Version 0.149)

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