Retinal disorders
Gene: TTC21BEnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
5 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.
Panel Version: 6.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Siying Lin (Moorfields Eye Hospital)
One additional individual in the 100kGP cohort who is also seen with the inherited retinal disease service at Moorfields Eye Hospital, who is homozygous for c.626C>T; p.Pro209Leu, and has retinal dystrophy and renal failureCreated: 21 Feb 2024, 3:02 p.m. | Last Modified: 21 Feb 2024, 3:02 p.m.
Panel Version: 4.71
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy; renal failure
Mode of pathogenicity
Other
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Siying Lin, an additional case has been seen with the inherited retinal disease service at Moorfields Eye Hospital and was reported with a homozygous variant in 100k genome project.
As there are three cases reported with retinal dystrophy, this gene can be promoted to green rating in the next GMS review.Created: 28 Feb 2024, 6:18 p.m. | Last Modified: 28 Feb 2024, 6:18 p.m.
Panel Version: 4.78
As reviewed by Nour Elkhateeb, there are two unrelated cases reported with retinal dystrophy.Created: 4 Jan 2024, 11:53 a.m. | Last Modified: 4 Jan 2024, 11:53 a.m.
Panel Version: 4.50
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy, HP:0000556
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)
Retinal dystrophy reported in two individuals with biallelic TTC21B variants.
1- Individual A34-21 in PMID 21068128 presenting with infantile Nephronophthisis, retinal dystrophy, situs inversus and short phalanges with c.2758-2A>G and c.626C>T p.P209L variants.
2- An individual in PMID 33599192 with Nephronophthisis and retinal dystrophy with c.626 C > T; p.Pro209Leu and c.1525 G > T; p.Glu509Ter variants.Created: 28 Dec 2023, 12:17 p.m. | Last Modified: 28 Dec 2023, 12:17 p.m.
Panel Version: 4.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy
Publications
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
no retinal phenotype with this particular short rib thoracic dysplasia gene - remove?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Retinal dystrophy, HP:0000556
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Skeletal ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Retinal disorders
- Clefting
- Structural eye disease
- Fetal anomalies
- Extreme early-onset hypertension
- Ductal plate malformation
- Proteinuric renal disease
- Cystic kidney disease
- Renal ciliopathies
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q1_24_promote_green was removed from gene: TTC21B. Tag Q1_24_NHS_review was removed from gene: TTC21B.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to TTC21B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: ttc21b has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_promote_green tag was added to gene: TTC21B. Tag Q1_24_NHS_review tag was added to gene: TTC21B.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: ttc21b has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TTC21B were changed from Eye Disorders to Retinal dystrophy, HP:0000556
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: TTC21B were set to 21068128; 33599192
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: TTC21B were set to
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: TTC21B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TTC21B.
Created
Ellen McDonagh (Genomics England Curator)TTC21B was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TTC21B was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red