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Fetal anomalies

Gene: ZDHHC9

Amber List (moderate evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Macrocephaly and corpus callosum abnormalities reported.
Created: 15 Feb 2022, 12:39 a.m. | Last Modified: 15 Feb 2022, 12:39 a.m.
Panel Version: 0.3420

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

Phenotypes
Mental retardation, X-linked syndromic, Raymond type, MIM# 300799

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

ID and dev delay are the main features
Created: 14 Feb 2022, 12:40 a.m. | Last Modified: 14 Feb 2022, 12:40 a.m.
Panel Version: 0.3396

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

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

Publications

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

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 Amber
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, X-linked syndromic, Raymond type, MIM# 300799
OMIM
300646
Clinvar variants
Variants in ZDHHC9
Penetrance
None
Panels with this gene

History Filter Activity

15 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).

15 Feb 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zdhhc9 has been classified as Amber List (Moderate Evidence).

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZDHHC9 was added gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED