Description
A combined panel for Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders.

This includes the disorders: 
- Atypical Beckwith-Wiedemann syndrome
- Classical Beckwith-Wiedemann syndrome
- Simpson-Golabi-Behmel syndrome
- Sotos syndrome
- Weaver syndrome

See individual eligibility statements for these disorders, available here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/
Panel Activity

10 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Julia Baptista (Faculty of Health, University of Plymouth)

    Group: Other
    Workplace: Other

31 Entities

31 reviewed, 24 green

List Entity Reviews Mode of inheritance Details
31 Entitiess
Green Green List (high evidence)
AKT2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Tags
  • missense
Green Green List (high evidence)
ASXL2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Shashi-Pena syndrome 617190
Tags
Green Green List (high evidence)
BRWD3
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Mental retardation, X-linked 93, 300659
  • macrocephaly
  • intellectual disability
Tags
Green Green List (high evidence)
CDKN1C
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Eligibility statement exclusion criteria
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann syndrome, 130650
  • IMAGE syndrome, 614732
Tags
Green Green List (high evidence)
CHD8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • {Autism, susceptibility to, 18}, 615032
  • Overgrowth with Intellectual disability
  • Human overgrowth syndrome type
Tags
Green Green List (high evidence)
DIS3L2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Perlman syndrome, 267000
Tags
Green Green List (high evidence)
DNMT3A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Tatton-Brown-Rahman syndrome, 615879
  • OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
  • DNMT3A overgrowth syndrome
Tags
Green Green List (high evidence)
EED
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cohen-Gibson syndrome, 617561
  • Human overgrowth syndrome type
  • Overgrowth with Intellectual disability
Tags
Green Green List (high evidence)
EZH2
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement exclusion criteria
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Weaver syndrome
  • Weaver syndrome 2
  • Weaver syndrome, 277590
  • Weaver Syndrome
Tags
Green Green List (high evidence)
GPC3
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement exclusion criteria
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Simpson-Golabi-Behmel syndrome type 1
  • Simpson-Golabi-Behmel syndrome, type 1, 312870
Tags
Green Green List (high evidence)
HIST1H1E
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Research
Phenotypes
  • OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
  • Rahman syndrome, 617537
Tags
  • new-gene-name
Green Green List (high evidence)
5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
ISCA-37425-Loss
Region
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • macrocephaly, overgrowth and advanced bone age
  • colpocephaly
  • Sotos syndrome
  • macrocephaly
  • 117550
  • rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw
Tags
Green Green List (high evidence)
MTOR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Overgrowth with Intellectual disability
  • Human overgrowth syndrome type
Tags
Green Green List (high evidence)
NFIB
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, 618286
Tags
Green Green List (high evidence)
NFIX
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Marshall-Smith syndrome, 602535
  • Sotos syndrome 2, 614753
Tags
Green Green List (high evidence)
NSD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement exclusion criteria
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Sotos syndrome 1, 117550
  • Leukemia, acute myeloid, 601626 (1)
  • Beckwith-Wiedemann syndrome, 130650
  • Sotos Syndrome
Tags
Green Green List (high evidence)
OFD1
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Oral-facial-digital syndrome 1, 311200
  • Simpson-Golabi-Behmel syndrome, type 2, 300209
  • Joubert syndrome 10, 300804
Tags
Green Green List (high evidence)
PDGFRB
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Kosaki overgrowth syndrome, OMIM:616592
Tags
Green Green List (high evidence)
PIK3CA
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Human overgrowth syndrome type
  • Overgrowth with Intellectual disability
  • CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
Tags
Green Green List (high evidence)
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Overgrowth with Intellectual disability
  • Human overgrowth syndrome type
Tags
Green Green List (high evidence)
RNF125
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Tenorio syndrome, OMIM:616260
Tags
Green Green List (high evidence)
SETD2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Luscan-Lumish syndrome, OMIM:616831
Tags
Green Green List (high evidence)
SUZ12
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Imagawa-Matsumoto syndrome 618786
Tags
Green Green List (high evidence)
ZBTB7A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769
Tags
Amber Amber List (moderate evidence)
AKT3
1 review
 Other
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
Amber Amber List (moderate evidence)
H19
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann syndrome (BWS)
Tags
  • locus-type-rna-long-non-coding
Amber Amber List (moderate evidence)
KCNQ1OT1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome, 130650
Tags
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
HERC1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocephaly, dysmorphic facies, and psychomotor retardation (includes overgrowth phenotype), 617011
Tags
Red Red List (low evidence)
IGF2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
Red Red List (low evidence)
PPP2R5D
1 review
 Unknown
Sources
  • Other
Phenotypes
  • Human overgrowth syndrome type
Tags
No list No list
ABCC9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Hypertrichotic osteochondrodysplasia, OMIM:239850
  • Cantu syndrome
Tags

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