Description
THIS PANEL IS CURRENTLY IN DEVELOPMENT.

This panel is used for clinical indication 'R429 Mosaic brain disorders - deep sequencing' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R429 Mosaic brain disorders - deep sequencing'.

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.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

5 reviewers

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

22 Entities

22 reviewed, 18 green

List Entity Reviews Mode of inheritance Details
22 Entitiess
Green Green List (high evidence)
AKT1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Proteus syndrome, somatic, OMIM:176920
  • Cowden syndrome 6, OMIM:615109
Tags
  • somatic
Green Green List (high evidence)
AKT3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
Green Green List (high evidence)
BRAF
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Focal cortical dysplasia
Tags
  • somatic
Green Green List (high evidence)
DCX
3 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 list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lissencephaly, X-linked, OMIM:300067 (males)
  • Subcortical laminal heterotopia, X-linked, OMIM:300067 (females)
Tags
Green Green List (high evidence)
DEPDC5
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Epilepsy, familial focal, with variable foci 1, OMIM:604364
  • Focal cortical dysplasia
Tags
  • somatic
Green Green List (high evidence)
FLNA
3 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 list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotopia, periventricular OMIM:300049
Tags
  • somatic
Green Green List (high evidence)
MTOR
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Focal cortical dysplasia, type II, somatic, OMIM:607341
  • Smith-Kingsmore syndrome, OMIM:616638
Tags
Green Green List (high evidence)
NPRL3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Epilepsy, familial focal, with variable foci 3, OMIM:617118
  • Focal cortical dysplasia
Tags
Green Green List (high evidence)
PAFAH1B1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lissencephaly 1, OMIM:607432
  • Subcortical laminar heterotopia, OMIM:607432
Tags
  • somatic
Green Green List (high evidence)
PIK3CA
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
  • Macrodactyly, somatic, OMIM:155500
  • Cerebral cavernous malformations 4, somatic, OMIM:619538
  • CLOVE syndrome, somatic, OMIM:612918
Tags
  • somatic
Green Green List (high evidence)
PIK3R2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Tags
Green Green List (high evidence)
PTEN
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cowden syndrome 1, OMIM:158350
  • Lhermitte-Duclos disease, OMIM:158350
  • Macrocephaly/autism syndrome, OMIM:605309
Tags
  • somatic
Green Green List (high evidence)
PTPN11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Focal cortical dysplasia
  • Mesial temporal sclerosis
Tags
  • somatic
Green Green List (high evidence)
RHEB
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Epilepsy and cortical dysplasia
Tags
  • gene-checked
  • somatic
Green Green List (high evidence)
SLC35A2
3 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 list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type IIm, OMIM:300896
  • Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Tags
  • somatic
Green Green List (high evidence)
TSC1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Tuberous sclerosis-1, OMIM:191100
  • Focal cortical dysplasia, type II, somatic, OMIM:607341
Tags
Green Green List (high evidence)
TSC2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Tuberous sclerosis-2, OMIM:613254
  • Focal cortical dysplasia, type II, somatic, OMIM:607341
Tags
Green Green List (high evidence)
TUBB2B
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Tags
Amber Amber List (moderate evidence)
CCND2
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
Tags
Amber Amber List (moderate evidence)
NPRL2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Epilepsy, familial focal, with variable foci 2, OMIM:617116
  • Focal cortical dysplasia
Tags
Red Red List (low evidence)
RPS6
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Hemimegalencephaly, severe intellectual disability, intractable seizures and hypochromic skin patches
Tags
  • somatic
  • watchlist
Red Red List (low evidence)
TBC1D7
4 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Tags

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