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Fetal anomalies

Gene: PAX3

Green List (high evidence)
PAX3 (paired box 3)
EnsemblGeneIds (GRCh38): ENSG00000135903
EnsemblGeneIds (GRCh37): ENSG00000135903
OMIM: 606597, Gene2Phenotype
PAX3 is in 14 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

PMID: 35607853 Salah et al., 2022 - biallelic case
Report of a severely affected female child, with a homozygous PAX3 variant (c.251C>T; p.Ser84Phe). Method: clinical Sanger seq of PAX3. Antenatal scan showed open spina bifida and limb deformities. Proband presented at birth with severe pigmentary skin defects, facial dysmorphism, muscle wasting, joint contractures. Brain CT scan revealed cerebellum and medulla displacement. She died at the age of 11 months. Family history included several family members with Waardenburg syndrome type 1. Parents are consanguineous, of Palestinian Arab origins.
Authors highlight that patients with monoallelic variants should be diagnosed with Waardenburg syndrome, while biallelic variants result in a separate disease entity of Klein syndrome.

PMID: 26443304 - Mousty et al 2015 - biallelic case
Case report, parents were first‐cousin relatives from a gypsy community in the south of France which both presented with a typical WS1 profile. Ultrasound examination of the fetus revealed cystic hygroma, holoprosencephaly, a lack of active movements, extremity abnormalities (short long bones associated with bilateral club hand and club foot), and significant spinal curvature. Both parents were found to have the same heterozygous mutation in exon 6 of PAX3, namely c.807C>G (p.Asn269Lys). Sequencing of fetal DNA found the mutation in the homozygous state. Functional studies showed an almost total loss of function of PAX3 co‐activation with SOX10 when it came to the mutant.
Created: 24 Aug 2026, 10:35 a.m. | Last Modified: 24 Aug 2026, 10:35 a.m.
Panel Version: 8.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Waardenburg syndrome, type 1, OMIM:193500; Waardenburg syndrome type 1, MONDO:0008670; Waardenburg syndrome, type 3, OMIM:148820; Waardenburg syndrome type 3, MONDO:0007862; Klein-Waardenburg syndrome

Publications

Created: 24 Aug 2026, 10:35 a.m.
Last Modified: 24 Aug 2026, 10:35 a.m.
Panel version: 8.5

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for WAARDENBURG SYNDROME, TYPE 1 and Confirmed for CRANIOFACIAL-DEAFNESS-HAND SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.153

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 1
  • CRANIOFACIAL-DEAFNESS-HAND SYNDROME
OMIM
606597
Clinvar variants
Variants in PAX3
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CRANIOFACIAL-DEAFNESS-HAND SYNDROME for gene: PAX3

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PAX3 was added gene: PAX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1