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Imprinting disorders (Version 1.3)


Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel includes:
-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and
-- genes associated with the regulation or modification of the imprinting process.
Panel Activity

2 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Anna Le Fevre (Victorian Clinical Genetics Services)

25 Entities

25 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
25 Entitiess
Green List (high evidence)
CDKN1C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: all
  • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
  • Phenotypes resulting from gene over expression: IMAGE syndrome
  • Silver-Russell Syndrome
Tags
Green List (high evidence)
GNAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: kidney, bone, brain
  • pseudopseudohypoparathyroidism
  • Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a, MIM# 103580
  • Albright hereditary osteodystrophy
Tags
Green List (high evidence)
IGF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: all
  • 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 3, MIM #616489
Tags
Green List (high evidence)
KCNK9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism
  • Affected tissue: brain
  • Birk-Barel syndrome, MIM# 612292
  • MONDO:0012856
Tags
Green List (high evidence)
KHDC3L
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydatiform mole recurrent 2 MIM#614293
Tags
Green List (high evidence)
MAGEL2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Schaaf-Yang syndrome, MIM# 615547
  • Chitayat-Hall Syndrome
Tags
Green List (high evidence)
MKRN3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Phenotype resulting from under expression: Precocious Puberty Syndrome
  • Affected tissue: HPA axis
Tags
  • 5'UTR
  • SV/CNV
Green List (high evidence)
NLRP2
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475
  • Early embryonic arrest
  • Multi locus imprinting disturbance in offspring
Tags
Green List (high evidence)
NLRP5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder
  • Affected tissue: all
Tags
Green List (high evidence)
NLRP7
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: all (incompatible with life)
  • hydatidiform mole, recurrent, 1 MONDO:0009273
  • Phenotype resulting from under expression: Biparental complete hydatidiform mole
  • Multi Locus Imprinting Disturbance
Tags
Green List (high evidence)
PADI6
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Preimplantation embryonic lethality 2 OMIM:617234
  • preimplantation embryonic lethality 2 MONDO:0014978
  • Multi Locus Imprinting Disturbance
  • Beckwith-Wiedemann syndrome
Tags
Green List (high evidence)
SGCE
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: brain
  • Phenotype resulting from under expression: upper body myoclonus, dystonia
  • Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044
Tags
Green List (high evidence)
STX16
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pseudohypoparathyroidism type 1b MIM no: 603233
Tags
  • SV/CNV
Green List (high evidence)
UBE3A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: brain
  • Phenotype resulting from under expression: Angelman Syndrome
Tags
Green List (high evidence)
ZFP57
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • IUGR
  • Diabetes mellitus, transient neonatal 1 OMIM:601410
  • Multi Locus Imprinting Disturbance
  • diabetes mellitus, transient neonatal, 1MONDO:0011073
Tags
Amber List (moderate evidence)
KCNQ1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
Amber List (moderate evidence)
KCNQ1OT1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Beckwith-Wiedemann syndrome OMIM:130650
  • Russell-Silver Syndrome
Tags
Amber List (moderate evidence)
TLE6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pre-implantation embryonic lethality MIM#616814
Tags
Red List (low evidence)
GNAS-AS1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pseudohypoparathyroidism type 1b MIM no: 603233
Tags
  • SV/CNV
Red List (low evidence)
H19
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation)
  • Affected tissue: all
  • Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
Tags
Red List (low evidence)
L3MBTL1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Affected tissue: myeloid lineages
  • Phenotype resulting from under expression: lymphoid malignancy
Tags
Red List (low evidence)
OOEP
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Multi locus imprinting disturbance in offspring
Tags
Red List (low evidence)
UHRF1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Multi locus imprinting disturbance in offspring
Tags
Red List (low evidence)
ZAR1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Multi locus imprinting disturbance in offspring
Tags
Red List (low evidence)
ZNF445
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Temple syndrome
  • Multi locus imprinting disturbance (MLID)
Tags

Major version comments

  • 2021-10-17 07:16 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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