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Overgrowth (Version 1.14)

Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Overgrowth, HP:0001548; Tall stature, HP:0000098; Increased body weight, HP:0004324
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
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

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

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

31 Entities

31 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
31 Entitiess
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (moderate evidence)
GLI3
1 review
 Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 List (low evidence)
RNF135
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags

Major version comments

  • 2021-01-17 10:59 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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