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/

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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

19 genes

18 reviewed, 11 green

List Gene Reviews Mode of inheritance Details
19 genes
Green Green List (high evidence)
ASXL2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Shashi-Pena syndrome 617190
Green Green List (high evidence)
BRWD3
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 93 300659
Green Green List (high evidence)
CDKN1C
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement exclusion criteria
Phenotypes
  • Beckwith-Wiedemann syndrome
  • OMIM 130650
  • IMAGE syndrome, 614732
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
Green Green List (high evidence)
EED
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cohen-Gibson syndrome 617561
Green Green List (high evidence)
EZH2
1 review
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Eligibility statement exclusion criteria
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Weaver syndrome
  • Weaver syndrome 2
  • Weaver syndrome, 277590
  • Weaver Syndrome
Green Green List (high evidence)
GPC3
1 review
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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Eligibility statement exclusion criteria
Phenotypes
  • Simpson-Golabi-Behmel syndrome type 1
  • Simpson-Golabi-Behmel syndrome, type 1, 312870
Green Green List (high evidence)
HIST1H1E
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Research
  • Expert Review Green
Phenotypes
  • OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY
  • Rahman syndrome, 617537
Green Green List (high evidence)
NFIX
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Marshall-Smith syndrome, 602535
  • Sotos syndrome 2, 614753
Green Green List (high evidence)
NSD1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement exclusion criteria
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Sotos syndrome 1, 117550
  • Leukemia, acute myeloid, 601626 (1)
  • Beckwith-Wiedemann syndrome, 130650
  • Sotos Syndrome
Green Green List (high evidence)
OFD1
1 review
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
Red Red List (low evidence)
CHD8
1 review
1 red
Unknown
Sources
  • Other
Phenotypes
  • {Autism, susceptibility to, 18}, 615032
  • Human overgrowth syndrome type
Red Red List (low evidence)
H19
2 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Beckwith-Wiedemann syndrome (BWS)
Tags
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
HERC1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Macrocephaly, dysmorphic facies, and psychomotor retardation (includes overgrowth phenotype), 617011
Red Red List (low evidence)
IGF2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
Red Red List (low evidence)
KCNQ1OT1
2 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Beckwith-Wiedemann Syndrome
Tags
  • locus-type-rna-long-non-coding
Red Red List (low evidence)
PIK3CA
1 review
1 red
Unknown
Sources
  • Other
Phenotypes
  • Human overgrowth syndrome type
Red Red List (low evidence)
PPP2R5D
1 review
Unknown
Sources
  • Other
Phenotypes
  • Human overgrowth syndrome type
Red Red List (low evidence)
PTEN
1 review
1 red
Unknown
Sources
  • Other
Phenotypes
  • Human overgrowth syndrome type

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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