CD96

CD96 molecule
OMIM: 606037, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber CD96 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • C syndrome, MIM#211750

Amber CD96 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
Phenotypes
  • C syndrome, MIM#211750

Amber CD96 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
Phenotypes
  • C syndrome, MIM#211750

Amber CD96 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • C syndrome, MIM#211750

Red CD96 in Skeletal dysplasia

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

1 review Not set
Sources
  • NHS GMS
  • Expert Review Amber
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • C-syndrome 217750 (opitz trigonocephaly)

Red CD96 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • C syndrome

Red CD96 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • C syndrome, MIM#211750

Red CD96 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • C syndrome