Description
This panel is a component of super panel 'Cerebral malformations' (panel id 491); it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel (version 1.4: https://panelapp.genomicsengland.co.uk/api/v1/panels/736/?version=1.4) was signed off under NHS Genomic Medicine Service governance on (04/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

This panel was originally developed as part of the ‘Segmental overgrowth disorders’ panel (https://panelapp.genomicsengland.co.uk/panels/98/) for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

12 Entities

8 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
12 Entitiess
Green Green List (high evidence)
AKT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Proteus syndrome, 176920
  • Proteus syndrome, somatic,176920
  • Macrocephaly and Overgrowth Syndromes
  • Segmental Overgrowth Syndrome
  • Proteus syndrome
Tags
Green Green List (high evidence)
AKT3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937
  • Macrocephaly and Overgrowth Syndromes
  • MPPH2
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
Tags
Green Green List (high evidence)
CCND2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
  • MPPH3
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501
  • CLOVE syndrome
  • CLOVES
  • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918
  • Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome
  • CLOVES syndrome
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
  • Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome
  • macrocephaly-capillary malformation (MCM) syndrome
  • Megalencephaly-Capillary malformation syndrome
  • Macrocephaly and Overgrowth Syndromes
  • MCAP
Tags
Green Green List (high evidence)
PIK3R2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • MPPH1
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1
  • Macrocephaly and Overgrowth Syndromes
Tags
Green Green List (high evidence)
PTEN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • hemihypertrophy
  • Bannayan Riley Ruvalcalba Syndrome
  • Bannayan-Riley-Ruvalcaba Syndrome
  • Proteus-like syndrome
  • macrocephaly
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • BRRS
  • Bannayan-Riley-Ruvalcaba syndrome,153480
  • megalencephaly
  • PTEN Hamartoma Tumor Syndrome
  • Macrocephaly and Overgrowth Syndromes
  • PHTS
  • Cowden syndrome
Tags
Red Red List (low evidence)
AKT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • HIHGHH
  • Hypoinsulinemic hypoglycemia with hemihypertrophy
  • Hypoinsulinemic hypoglycemia with hemihypertrophy,240900
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Tags
Red Red List (low evidence)
HRAS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
KRAS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
MTOR
1 review
Not set
Sources
  • Expert Review Red
Phenotypes
  • Segmental Overgrowth Syndrome
  • HME
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
NRAS
0 reviews
Not set
Sources
  • Expert Review Red
Phenotypes
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200
  • Hemimegalencephaly
Tags
Red Red List (low evidence)
TBC1D7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MGCPH
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000
Tags

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