Cytopenia - NOT Fanconi anaemia

Gene: CTC1

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.

Created: 18 Feb 2019, 2:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita; Dyskeratosis Congenita, Recessive; Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita

I don't know

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.

Created: 14 Feb 2019, 5:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.

Created: 8 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
612199 Coats plus syndrome

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.

Created: 22 Jul 2019, 11:38 a.m. | Last Modified: 22 Jul 2019, 11:38 a.m.

Panel Version: 0.59

Discrepant reviews for CTC1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.

Created: 22 Jul 2019, 11:37 a.m. | Last Modified: 22 Jul 2019, 11:37 a.m.

Panel Version: 0.58

Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis Congenita, Recessive;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; PMID(s): none submitted

Created: 18 Feb 2019, 2:57 p.m.

Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Dyskeratosis congenita; PMID(s): none submitted

Created: 14 Feb 2019, 5:40 p.m.

Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612199 Coats plus syndrome; PMID(s): 22532422; 22267198; 22387016; 22899577

Created: 8 Feb 2019, 1:43 p.m.

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CTC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis Congenita, Recessive;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; PMID(s): 22532422;22899577

Created: 6 Feb 2019, 3:13 p.m.

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.

Created: 6 Feb 2019, 3:12 p.m.