Surfactant deficiency
Gene: TERT
TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
3 reviews
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Not appropriate for this neonatal onset panel.Created: 23 Aug 2019, 4:55 p.m. | Last Modified: 23 Aug 2019, 4:55 p.m.
Panel Version: 0.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment on list classification: Would not be expected to present in neonates, which are the intended target of this panel.Created: 20 Jan 2019, 6:24 p.m.
Louise Daugherty (Genomics England Curator)
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel, so rating was downgraded to RedCreated: 21 Jan 2019, 10:17 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: Amber; Evidence for inclusion: OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related; Evidence for exclusion: Respiratory failure/distress adult-onset; rest of panel is neonatal causes.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 2:58 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Panels with this gene
-
- Polycystic liver disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Pulmonary fibrosis familial
- Intellectual disability
- Familial pulmonary fibrosis
- Cerebellar hypoplasia
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Surfactant deficiency
- Childhood solid tumours
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Sarcoma susceptibility
- Hereditary ataxia with onset in adulthood
- Ductal plate malformation
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Familial melanoma
- Mosaic skin disorders - deep sequencing
- Skeletal dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
4 Sep 2019, Gel status: 1
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Jan 2019, Gel status: 1
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: tert has been classified as Red List (Low Evidence).
5 Dec 2018, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to TERT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
5 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: TERT was added gene: TERT was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: TERT was set to