Description
This panel includes genes that are imprinted and are associated with disease when either the remaining copy is non-functional, or the functional copy is duplicated. Genes are also included that are involved in setting up/modifying the imprinting process but are not imprinted themselves.   This list was originally compiled from feedback from the Imprinting GeCIP Subdomain (November 2015) and from genes within PanelApp with an imprinted mode of inheritance (4th May 2017).  Curated genes from Tucci et al (PMID: 30794780) (Table S1) have also been included (22nd Dec 2020).

3 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

231 Entities

126 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
231 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, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
  • Literature
Phenotypes
  • Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a
  • pseudopseudohypoparathyroidism
  • Affected tissue: kidney, bone, brain
Tags
Green Green List (high evidence)
H19
1 review
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
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
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)
KCNQ1OT1
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: Beckwith-Wiedemann Syndrome
  • Affected tissue: all
Tags
  • locus-type-rna-long-non-coding
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)
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)
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)
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
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
1 review
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)
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)
GRB10
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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
  • 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)
KCNQ1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal 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)
KHDC3L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole
  • Affected tissue: all (incompatible with life)
Tags
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
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
  • 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)
MAGEL2
1 review
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
  • PanelApp
Phenotypes
  • From the Intellectual disability gene panel
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)
MEG3
1 review
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
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)
MEST
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
Tags
Red Red List (low evidence)
MESTIT1
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)
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
  • 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
  • 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)
MYH6
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PanelApp
Phenotypes
  • From the Familial non syndromic congenital heart disease gene panel
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)
NLRP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome. Multi-locus imprinting disorder
  • Affected tissue: all
Tags
Red Red List (low evidence)
NLRP5
1 review
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder
  • Affected tissue: all
Tags
Red Red List (low evidence)
NLRP7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole
  • Affected tissue: all (incompatible with life)
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
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)
PADI6
1 review
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature
Phenotypes
  • Preimplantation embryonic lethality 2 OMIM:617234
  • Beckwith-Wiedemann syndrome
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
Red Red List (low evidence)
PEG3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
Tags
Red Red List (low evidence)
PGM5P3-AS1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Tags
  • 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)
PLAGL1
1 review
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
0 reviews
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)
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
  • 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
  • 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
  • locus-type-rna-small-nuclear
Red Red List (low evidence)
SNRPN
1 review
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
Tags
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, maternally imprinted (paternal allele expressed)
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
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)
ZFP57
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Imprinting GeCIP Subdomain
Phenotypes
  • Phenotype resulting from under expression: Transient Neonatal Diabetes Mellitus Type 1
  • Multi-locus imprinting disorder
  • Affected tissue: pancreatic beta-cells (prenatal growth restriction)
Tags
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
EZH2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • PanelApp
Phenotypes
  • Weaver syndrome OMIM:277590
Tags
No list No list
SIX3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • PanelApp
Phenotypes
  • Holoprosencephaly 2 OMIM:157170
Tags
No list No list
TBX5
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Removed
  • PanelApp
Phenotypes
  • From the Familial non syndromic congenital heart disease gene panel
Tags

Downloads

Download lists

Download Version