ZDHHC9:Ensemblv115

zDHHC palmitoyltransferase 9
OMIM: 300646, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber ZDHHC9 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Raymond type, MIM#300799

Green ZDHHC9 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, Raymond type, MIM# 300799

Green ZDHHC9 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked syndromic, Raymond type, MIM#300799

Green ZDHHC9 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green ZDHHC9 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked syndromic, Raymond type, 300799 (3)

Green ZDHHC9 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427

Green ZDHHC9 in Prepair 500+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427
Tags
  • SV/CNV