ZNF423

zinc finger protein 423
OMIM: 604557, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red ZNF423 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Red ZNF423 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	Not set	Sources Emory Genetics Laboratory
Amber ZNF423 in Tubulointerstitial kidney disease Level 2: Renal Version 3.15 Latest signed off version: v3.5 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844
Amber ZNF423 in Cystic kidney disease Level 2: Renal Version 8.8 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Unexplained young onset end-stage renal disease	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844
Red ZNF423 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.125	review	Not set	Sources Expert Review Red Expert Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844
Red ZNF423 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Red ZNF423 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	Not set	Sources Emory Genetics Laboratory
Amber ZNF423 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber PAGE Additional Gene List Phenotypes Nephronophthisis 14 614844 Joubert syndrome 19 614844
Green ZNF423 in Retinal disorders Level 2: Ophthalmology Version 8.116 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Eye Disorders
Red ZNF423 in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Nephronophthisis 14, 614844 Joubert syndrome 19, 614844 Eye Disorders
Amber ZNF423 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Other Orphanet Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844
Amber ZNF423 in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.22 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Orphanet Radboud University Medical Center, Nijmegen Expert Review Amber Expert list Other Emory Genetics Laboratory Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844
Amber ZNF423 in Neurological ciliopathies Level 2: Neurology Version 6.17 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844
Amber ZNF423 in Renal ciliopathies Level 2: Renal Version 4.14 Latest signed off version: v4.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Unexplained young onset end-stage renal disease	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Orphanet Radboud University Medical Center, Nijmegen Expert Review Amber Expert list Other Emory Genetics Laboratory Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844
Red ZNF423 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844