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  2. Macrocephaly_Megalencephaly
  3. ZDHHC9
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Macrocephaly_Megalencephaly

Gene: ZDHHC9

Green List (high evidence)
ZDHHC9 (zinc finger DHHC-type containing 9)
EnsemblGeneIds (GRCh38): ENSG00000188706
EnsemblGeneIds (GRCh37): ENSG00000188706
OMIM: 300646, Gene2Phenotype
ZDHHC9 is in 10 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Macrocephaly reported in at least 5 individuals with ZDHHC9 variants and related conditions
Sources: Literature
Created: 26 May 2022, 12:17 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 26 May 2022, 12:17 a.m.

Panel version: 0.111

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, Raymond type, MIM# 300799
OMIM
300646
Clinvar variants
Variants in ZDHHC9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zdhhc9 has been classified as Green List (High Evidence).

30 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZDHHC9 were changed from to Intellectual developmental disorder, X-linked, syndromic, Raymond type, MIM# 300799

30 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zdhhc9 has been classified as Green List (High Evidence).

26 May 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications

Lucy Spencer (Victorian Clinical Genetics Services)

gene: ZDHHC9 was added gene: ZDHHC9 was added to Macrocephaly_Megalencephaly. Sources: Literature Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZDHHC9 were set to 29681091 Review for gene: ZDHHC9 was set to GREEN