Retinal disorders
Gene: TTC21B
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
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
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
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
Gene: ttc21b has been classified as Amber List (Moderate Evidence).
Tag Q1_24_promote_green tag was added to gene: TTC21B. Tag Q1_24_NHS_review tag was added to gene: TTC21B.
Gene: ttc21b has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TTC21B were changed from Eye Disorders to Retinal dystrophy, HP:0000556
Publications for gene: TTC21B were set to 21068128; 33599192
Publications for gene: TTC21B were set to
Mode of inheritance for gene: TTC21B was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to TTC21B.
TTC21B was created by ellenmcdonagh
TTC21B was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red