Arthrogryposis
Gene: ZIC3EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple congenital contractures are not really a common presenting feature.Created: 13 Jul 2020, 2:59 a.m. | Last Modified: 13 Jul 2020, 2:59 a.m.
Panel Version: 0.183
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Heterotaxy, visceral, 1, X-linked, MIM# 306955; VACTERL association, X-linked, MIM# 314390
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Heterotaxy, visceral, 1, X-linked, MIM# 306955
- VACTERL association, X-linked, MIM# 314390
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- None
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Repeat Disorders
- Hydrocephalus_Ventriculomegaly
- Radial Ray Abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Heterotaxy
- Congenital Heart Defect
- Arthrogryposis
- Mendeliome
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zic3 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ZIC3 were changed from to Heterotaxy, visceral, 1, X-linked, MIM# 306955; VACTERL association, X-linked, MIM# 314390
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ZIC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zic3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ZIC3 was added gene: ZIC3 was added to Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZIC3 was set to Unknown