Clefting

Gene: PAX3

Green List (high evidence)

PMID: 34918979 Liang et al., 2021
Report of a Chinese pedigree with nonsyndromic cleft lip with or without palate. Son (proband, 11yo male) and his father affected. Both affected individuals were het for a PAX3 missense variant: c.92C>G, p.(Thr31Ser). Method: Trio WES. Variant was absent in the healthy mother, as well as 113 unrelated healthy controls.

PMID: 27081571 Yoshida et al., 2016
Report of a 10 mo Japanese boy with pigmentation abnormalities of the right iris, ocular hypertelorism (W index: 2.00), right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism. Family history of iris pigmentation abnormality and hearing loss on mother's side. Proband was het for PAX3: c.1107C>G, p.(Ser369Arg), parents not tested. Variant not in gnomAD v4.1.1.

PMID: 18483623 Wu et al., 2008 - mouse model
Persistent expression of Pax3 in cranial neural crest cells resulted in cleft palate, ocular defects, malformation of the sphenoid bone, and perinatal lethality in mice.

Created: 28 Aug 2026, 11:07 a.m. | Last Modified: 28 Aug 2026, 11:12 a.m.

Panel Version: 7.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
orofacial cleft, MONDO:0000358; Waardenburg syndrome, type 1, OMIM:193500; Waardenburg syndrome type 1, MONDO:0008670

Publications

• 18483623
• 27081571
• 34918979

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
WAARDENBURG