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Description
This panel was developed and is maintained by VCGS.

It contains genes associated with generalised overgrowth of prenatal or postnatal onset. Generalised overgrowth is characterised by a relatively proportionate increase in stature (length or height) and/or head circumference at least two standard deviations above the mean compared to the age‐related peer group. This panel does not contain genes causing segmental overgrowth.

Chromosomal testing/methylation studies are recommended prior to sequencing for the diagnosis of Beckwith-Wiedemann syndrome.

Please also refer to the Macrocephaly panel if head growth is primarily or disproportionately affected.
Panel Activity

3 reviewers

  • Chirag Patel (Genetic Health Queensland)

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

  • Belinda Chong (Victorian Clinical Genetics Services)

31 Entities

31 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
31 Entitiess
Green Green List (high evidence)
ABCC9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypertrichotic osteochondrodysplasia, MIM# 239850
  • Cantu syndrome
Tags
Green Green List (high evidence)
AKT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900
Tags
Green Green List (high evidence)
BRWD3
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked 93, OMIM # 300659
Tags
Green Green List (high evidence)
CDKN1C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Beckwith-Wiedemann syndrome, MIM# 130650
Tags
Green Green List (high evidence)
CHD8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Autism, susceptibility to, 18} 615032
  • Neurodevelopmental disorder, MONDO:0700092, CHD8-associated
Tags
Green Green List (high evidence)
DIS3L2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Perlman syndrome, MIM# 267000
Tags
  • SV/CNV
Green Green List (high evidence)
DNMT3A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tatton-Brown-Rahman syndrome, OMIM# 615879
Tags
Green Green List (high evidence)
EED
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cohen-Gibson syndrome, MIM# 617561
Tags
Green Green List (high evidence)
EZH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Weaver syndrome MIM#277590
Tags
Green Green List (high evidence)
GPC3
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Tags
Green Green List (high evidence)
HIST1H1E
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rahman syndrome, MIM# 617537
Tags
Green Green List (high evidence)
MTOR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Smith-Kingsmore syndrome, MIM# 616638
Tags
Green Green List (high evidence)
NFIX
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sotos syndrome 2, MIM# 614753
  • Malan syndrome
Tags
Green Green List (high evidence)
NSD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sotos syndrome 1, MIM# 117550
Tags
  • SV/CNV
Green Green List (high evidence)
PDGFRB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kosaki overgrowth syndrome, MIM# 616592
Tags
Green Green List (high evidence)
PIK3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cowden syndrome 5, MIM# 615108
Tags
Green Green List (high evidence)
PPP2R5D
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Houge-Janssens syndrome 1, MIM#616355
Tags
Green Green List (high evidence)
PTEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cowden syndrome 1, MIM# 158350
  • Macrocephaly/autism syndrome, MIM# 605309
  • PTEN hamartoma tumor syndrome MONDO:0017623
Tags
Green Green List (high evidence)
RNF125
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tenorio syndrome, MIM# 616260
Tags
Green Green List (high evidence)
SETD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Luscan-Lumish syndrome, MIM#616831
Tags
Green Green List (high evidence)
SUZ12
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Imagawa-Matsumoto syndrome, MIM# 618786
Tags
Amber Amber List (moderate evidence)
FIBP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Thauvin-Robinet-Faivre syndrome, MIM#617107
Tags
Amber Amber List (moderate evidence)
GLI3
1 review
 Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
KMT5B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 51, MIM#617788
Tags
Amber Amber List (moderate evidence)
MED12
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lujan-Fryns syndrome, MIM# 309520
  • Opitz-Kaveggia syndrome, MIM# 305450
Tags
Amber Amber List (moderate evidence)
OFD1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209
Tags
Amber Amber List (moderate evidence)
SPIN4
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lui-Jee-Baron syndrome MIM#301114
Tags
Amber Amber List (moderate evidence)
TCF20
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Tags
Red Red List (low evidence)
PHF6
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Tags
Red Red List (low evidence)
PTCH1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Basal cell nevus syndrome, MIM# 109400
Tags
Red Red List (low evidence)
RNF135
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags

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