TCTN2

tectonic family member 2
OMIM: 613846, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red TCTN2 in Familial Neural Tube Defects Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Meckel Syndrome
Red TCTN2 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 TCTN2 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	Not set	Sources Emory Genetics Laboratory
No list TCTN2 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Joubert syndrome 24, 616654 ?Meckel syndrome 8, 613885 postaxial polydactyly Tags curated_removed
No list TCTN2 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Joubert syndrome 24 (616654) ?Meckel syndrome 8 (613885) Tags curated_removed
Red TCTN2 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Phenotypes Joubert syndrome Meckel-Gruber syndrome
Red TCTN2 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Green TCTN2 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	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Joubert syndrome 24 616654 Meckel syndrome 8 613885
Green TCTN2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes JOUBERT SYNDROME AND RELATED DISORDERS
Green TCTN2 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes JOUBERT SYNDROME AND RELATED DISORDERS 194263
Green TCTN2 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes JOUBERT SYNDROME AND RELATED DISORDERS
Red TCTN2 in Retinal disorders Level 2: Ophthalmology Version 8.116 Latest signed off version: v8.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Red TCTN2 in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Phenotypes Joubert syndrome Joubert syndrome 24, 616654 Meckel-Gruber syndrome Meckel syndrome 8, 613885
Green TCTN2 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Orphanet Expert Review Green Expert list Phenotypes Joubert syndrome, Meckel-Gruber syndrome Meckel syndrome Joubert syndrome 24
Green TCTN2 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	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Meckel syndrome Joubert syndrome 24 Joubert syndrome, Meckel-Gruber syndrome
Green TCTN2 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Meckel syndrome Joubert syndrome 24 Joubert syndrome, Meckel-Gruber syndrome
Green TCTN2 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	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Meckel syndrome Joubert syndrome 24 Joubert syndrome, Meckel-Gruber syndrome
Red TCTN2 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	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Meckel syndrome Joubert syndrome, Meckel-Gruber syndrome Joubert syndrome 24