ZIC3

Zic family member 3
OMIM: 300265, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red ZIC3 in Currarino triad Version 1.2	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 1.25	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 1.35	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 Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	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 1.24	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 Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) 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 1.90	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN 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 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Green ZIC3 in Laterality disorders and isomerism Level 2: Respiratory Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	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 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) 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 1.181	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 1.14	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.280 Latest signed off version: v9.0 (30 Apr 2025) 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 1.180	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