PanelApp (test)
  1. Genes and Genomic Entities
  2. SMARCE1:Ensemblv90

SMARCE1:Ensemblv90

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
OMIM: 603111, ClinGen, DECIPHER

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green SMARCE1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SMARCE1 in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 5, MIM# 616938

Green SMARCE1 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 5, MIM# 616938
  • {Meningioma, familial, susceptibility to} 607174

Red SMARCE1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Coffin-Siris syndrome 5 MIM#616938

    Green SMARCE1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Coffin-Siris syndrome 5, MIM# 616938

    Green SMARCE1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.365

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Coffin-Siris syndrome 5, MIM# 616938

    Red SMARCE1 in CGC_86


    Version 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Meningioma, familial

    Red SMARCE1 in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Meningioma, familial

    Red SMARCE1 in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Meningioma, familial

    Green SMARCE1 in Schwannomatosis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.17

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Meningioma, familial, susceptibility to} MIM#607174

    Green SMARCE1 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.80

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coffin-Siris syndrome 5 MIM#616938

    Green SMARCE1 in Fetal anomalies


    Version 1.482

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Coffin-Siris syndrome 5, MIM# 616938

    Green SMARCE1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green SMARCE1 in Hypertrichosis syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Coffin-Siris syndrome 5, MIM# 616938

    Green SMARCE1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Coffin-Siris syndrome 5, MIM# 616938

    Green SMARCE1 in Schwannomatosis


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • {Meningioma, familial, susceptibility to} MIM#607174

    Green SMARCE1 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Coffin-Siris syndrome 5 MIM#616938

    Green SMARCE1 in Fetal anomalies


    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Coffin-Siris syndrome 5, MIM# 616938