CTR9:Ensemblv90

CTR9 homolog, Paf1/RNA polymerase II complex component
OMIM: 609366, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green CTR9 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.153

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), CTR9 related
  • Macrocephaly

Green CTR9 in Mendeliome


Version 1.3802

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), CTR9 related
  • Familial Wilms tumour, MONDO:0006058, CTR9-related

Green CTR9 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Familial Wilms tumour, MONDO:0006058, CTR9-related

Green CTR9 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), CTR9-related

Green CTR9 in Wilms Tumour Predisposition


Level 2: Cancer predisposition
Version 0.40

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial Wilms tumour, MONDO:0006058, CTR9-related

Red CTR9 in TCGA_PANCAN_2018


Version 0.3

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA

Red CTR9 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Wilms tumour predisposition
Tags
  • cancer

Green CTR9 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), CTR9 related
  • Macrocephaly

Green CTR9 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Familial Wilms tumour, MONDO:0006058, CTR9-related

Green CTR9 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), CTR9-related

Green CTR9 in Wilms Tumour Predisposition


Level 2: Cancer predisposition
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Familial Wilms tumour, MONDO:0006058, CTR9-related

Red CTR9 in TCGA_PANCAN_2018


Version 1.0

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA