SIX5

SIX homeobox 5
OMIM: 600963, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red SIX5 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, NOT imprinted	Sources Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Phenotypes Branchiootorenal syndrome 2, OMIM:610896
Red SIX5 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes Branchiootorenal syndrome 2, OMIM:610896
Red SIX5 in Ductal plate malformation Version 1.31	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Branchiootorenal syndrome 2 (610896)
Red SIX5 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Branchiootorenal syndrome 2, OMIM:610896
Red SIX5 in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.181	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Branchiootorenal syndrome 2, OMIM:610896
Green SIX5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Branchiootorenal syndrome 2, OMIM:610896 Tags Q3_25_expert_review disputed Q3_25_demote_red
Green SIX5 in DDG2P Version 6.424 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 BRANCHIOOTORENAL SYNDROME TYPE 2 610896
Red SIX5 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Branchiootorenal syndrome 2, OMIM:610896
Green SIX5 in Clefting Level 2: Musculoskeletal Version 6.20 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 Branchiootorenal syndrome 2, OMIM:610896 Tags Q3_25_expert_review disputed Q3_25_demote_red
Red SIX5 in Intellectual disability Level 2: Developmental disorders Version 9.279 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 Branchiootorenal syndrome 2, OMIM:610896
Green SIX5 in Unexplained young onset end-stage renal disease - additional genes Level 2: Renal Version 1.4 Latest signed off version: v1.1 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Branchiootorenal syndrome 2, OMIM:610896 Tags Q3_25_expert_review disputed Q3_25_demote_red