ZIC3

Zic family zinc finger 3
OMIM: 300265, ClinGen, DECIPHER

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red ZIC3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review 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

Green ZIC3 in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • VACTERL association, X-linked, MIM#314390

Green ZIC3 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotaxy, visceral, 1, X-linked (MIM#306955)

Red ZIC3 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews 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)

Green ZIC3 in Heterotaxy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Heterotaxy, visceral, 1, X-linked (MIM#306955)

Green ZIC3 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ZIC3 in Mendeliome


Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955)
  • Heterotaxy, visceral, 1, X-linked (MIM#306955)
  • VACTERL association, X-linked, MIM# 314390

Green ZIC3 in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • VACTERL association, X-linked 314390

Green ZIC3 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red ZIC3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews Not set
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services

Green ZIC3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)

Green ZIC3 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Heterotaxy

Green ZIC3 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
  • VACTERLX

Green ZIC3 in Fetal anomalies


Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Expert Review
Phenotypes
  • Congenital heart defects, nonsyndromic, 1, X-linked, MIM#306955
  • Heterotaxy, visceral, 1, X-linked, MIM#306955
  • VACTERL association, X-linked, MIM#314390

Green ZIC3 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955)
  • Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607)
  • VACTERL association, X-linked, MIM# 314390, MONDO:0010752

Red ZIC3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • X linked heterotaxy and congenital heart defects MIM:306955

Red ZIC3_VACTERLX_GCC STR in Repeat Disorders


Version 1.0

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • VACTERL association, X-linked MIM#314390
Tags
  • paediatric-onset