Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: ZDHHC16

Amber List (moderate evidence)

ZDHHC16 (zinc finger DHHC-type containing 16)
EnsemblGeneIds (GRCh38): ENSG00000171307
EnsemblGeneIds (GRCh37): ENSG00000171307
OMIM: 616750, Gene2Phenotype
ZDHHC16 is in 4 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

6 families including a pair of siblings

Amber because 5 of the families had non specific phenotypes listed
Abnormality of:
the nervous system, metabolism/homeostasis, head/neck, immune system, the integument, the digestive system, the respiratory system, the endocrine system, Growth abnormality the skeletal system, the musculature, the eye

Specific HPOs were provided for one individual (homoyzygous for a canonical splice)

Abnormality of the face; Cerebellar hypoplasia; Developmental regression; Encephalopathy; Hyperreflexia; Hypertonia; Hypotonia; Inguinal hernia; Laryngomalacia; Microcephaly; Motor delay; Optic atrophy; Seizure; Spastic paraparesis; Spasticity; Talipes equinovarus; Umbilical hernia
Sources: Literature
Created: 3 Oct 2024, 12:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO:0700092, ZDHHC16-related

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, ZDHHC16-related
OMIM
616750
Clinvar variants
Variants in ZDHHC16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).

3 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).

3 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: zdhhc16 has been classified as Amber List (Moderate Evidence).

3 Oct 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: ZDHHC16 was added gene: ZDHHC16 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ZDHHC16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZDHHC16 were set to 39313616 Phenotypes for gene: ZDHHC16 were set to neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Review for gene: ZDHHC16 was set to AMBER gene: ZDHHC16 was marked as current diagnostic