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Mendeliome

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 families reported.

Intra-genic CNV in 2 families
Created: 14 Feb 2022, 12:28 a.m. | Last Modified: 14 Feb 2022, 12:30 a.m.
Panel Version: 0.10953

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

Phenotypes
Mental retardation, X-linked syndromic, Raymond typeMIM# 300799

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

15 Feb 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).

15 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZDHHC9 were changed from to Mental retardation, X-linked syndromic, Raymond type MIM# 300799

15 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZDHHC9 were set to

15 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZDHHC9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZDHHC9 was added gene: ZDHHC9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZDHHC9 was set to Unknown