PAX3

paired box 3
OMIM: 606597, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red PAX3 in Familial rhabdomyosarcoma Level 3: Muscle and nerve Level 2: Tumour syndromes Version 1.5	review	Other - please specifiy in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Rhabdomyosarcoma, alveolar, 268220
Green PAX3 in Limb disorders Version 4.21 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Waardenburg syndrome, type 3, 148820
Green PAX3 in Pigmentary skin disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes WAARDENBURG SYNDROME, TYPE 1 WS3 Waardenburg syndrome WS1, WAARDENBURG SYNDROME, TYPE 3
Red PAX3 in Sarcoma cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.25	review	Other - please specifiy in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Rhabdomyosarcoma, alveolar, 268220
Green PAX3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Craniofacial-deafness-hand syndrome, 122880 Waardenburg syndrome, type 1, 193500 Waardenburg syndrome, type 3, 148820
Green PAX3 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes WAARDENBURG SYNDROME, TYPE 1 CRANIOFACIAL-DEAFNESS-HAND SYNDROME
Red PAX3 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Phenotypes Waardenburg syndrome Craniofacial-deafness-hand syndrome
Red PAX3 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Craniofacial-Deafness-Hand Syndrome
Green PAX3 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WAARDENBURG SYNDROME, TYPE 1 193500 CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880
Green PAX3 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes #122880:Craniofacial-deafness-hand syndrome #148820:Waardenburg syndrome, type 3 #193500:Waardenburg syndrome, type 1 #268220:Rhabdomyosarcoma 2, alveolar
Green PAX3 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.110 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes WAARDENBURG
Red PAX3 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Waardenburg syndrome, type 1, 193500 Waardenburg syndrome, type 3, 148820 Craniofacial-deafness-hand syndrome, 122880 Rhabdomyosarcoma 2, alveolar, 268220
Red PAX3 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Waardenburg syndrome, type 1, 193500 Waardenburg syndrome, type 3, 148820
Red PAX3 in Sarcoma susceptibility Version 1.81 Latest signed off version: v1.2 (18 Feb 2020)	review	Other - please specifiy in evaluation comments	Sources NHS GMS Expert Review Red Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Rhabdomyosarcoma, alveolar, OMIM:268220
Green PAX3 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Rhabdomyosarcoma 2, alveolar, 268220 Waardenburg syndrome, type 3, 148820 Craniofacial-deafness-hand syndrome, 122880 Waardenburg syndrome, type 1, 193500