Thoracic dystrophies
Gene: ZIC3
Comment on list classification: Although the number of cases (two published and one unpublished) meets causation criteria for VACTERL-H, this is not a phenotype that is considered relevant to the thoracic dysplasia panel. Therefore red.Created: 30 May 2017, 12:15 p.m.
Although there are two reported cases in the literature, discussed with Richard Scott who is aware of a further, unpublished caseCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
Mode of inheritance for ZIC3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Amber List (Moderate Evidence).
ZIC3 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory