ZIC3

Zic family member 3
OMIM: 300265, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red ZIC3 in Currarino triad Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Other Phenotypes Heterotaxy, visceral, 1, X-linked Sacral agenesis Rectal stenosis
Green ZIC3 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes VACTERL association, X-linked 314390
Green ZIC3 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.34	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 Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes VACTERL Association, X-linked Heterotaxy, visceral, 1, X-linked 306955
Green ZIC3 in Hydrocephalus Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Literature Phenotypes VACTERL association, X-linked, OMIM:314390
Red ZIC3 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Emory Genetics Laboratory Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS VACTERLX
Green ZIC3 in Limb disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes VACTERL association, X-linked 314390
Green ZIC3 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.80	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature UKGTN Radboud University Medical Center, Nijmegen Phenotypes x-linked Heterotaxy syndrome, Visceral, 1 Heterotaxy, visceral, 1, X-linked 306955 Visceral Heterotaxy Heterotaxy, Visceral, 1, X-Linked
Red ZIC3 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.42	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Green ZIC3 in Laterality disorders and isomerism Version 3.9 Latest signed off version: v3.0 (22 Mar 2023)	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 NHS GMS Phenotypes Heterotaxy, visceral, 1, X-linked, 306955 Congenital heart defects, nonsyndromic, 1, X-linked
Red ZIC3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Green ZIC3 in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.175 Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	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 Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Other Literature Illumina TruGenome Clinical Sequencing Services Phenotypes anorectal malformation VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS VACTERL Association, X-linked 314390 VACTERLX 314390
Green ZIC3 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS HETEROTAXY SYNDROME
Green ZIC3 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 319683 HETEROTAXY SYNDROME 207574
Green ZIC3 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.108 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS VACTERLX
Red ZIC3 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Heterotaxy, visceral, 1, X-linked 306955 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 VACTERL association, X-linked, 314390
Red ZIC3 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.170	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 Red Emory Genetics Laboratory Expert list
Green ZIC3 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes VACTERL association, X-linked, 314390 Heterotaxy, visceral, 1, X-linked, 306955 Congenital heart defects, nonsyndromic, 1, X-linked, 306955