SALL4

spalt like transcription factor 4
OMIM: 607343, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SALL4 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Other UKGTN Radboud University Medical Center, Nijmegen Phenotypes Duane-radial ray syndrome, 607323 IVIC syndrome, 147750
Red SALL4 in Choanal atresia Level 3: Choanal anomalies Level 2: Skeletal disorders Version 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Other Illumina TruGenome Clinical Sequencing Services Phenotypes Duane-radial ray syndrome 607323
Green SALL4 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory
Green SALL4 in Deafness and congenital structural abnormalities Level 3: Deafness and congenital structural abnormalities Level 2: Hearing and ear disorders Version 1.37	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Familial hemifacial microsomia with abnormal thumbs hearing loss panel Duane-radial ray syndrome, 607323 SALL4-Related Spectrum Dis
Green SALL4 in Limb disorders Level 2: Musculoskeletal Version 7.25 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Emory Genetics Laboratory Expert list London South East RGC GSTT Viapath Phenotypes Polydactyly IVIC syndrome, 147750 Radial Ray abnormality IVIC syndrome 147750 Duane-radial ray syndrome, 607323 Okihiro (Duane-radial ray) syndrome 607323
Green SALL4 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Duane-radial ray syndrome, 607323
Green SALL4 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.40 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Okihiro (Duane-radial ray) syndrome 607323 IVIC syndrome 147750
Amber SALL4 in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.182	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Duane-radial ray syndrome, 607323
Green SALL4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes DUANE-RADIAL RAY SYNDROME ACRO-RENAL-OCULAR SYNDROME
Green SALL4 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACRO-RENAL-OCULAR SYNDROME 607323 DUANE-RADIAL RAY SYNDROME 607323
Green SALL4 in Monogenic hearing loss Level 2: Audiology Version 5.64 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Phenotypes hearing loss Duane-radial ray syndrome 607323 IVIC syndrome 147750
Green SALL4 in Clefting Level 2: Musculoskeletal Version 6.23 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes DUANE-RADIAL RAY SYNDROME DRRS
Red SALL4 in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) 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 Duane-radial ray syndrome, 607323 IVIC syndrome, 147750
Green SALL4 in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Duane-radial ray syndrome, 607323