STRs in panel
Prev Next
Regions in panel
Prev Next

Surfactant deficiency

Gene: TERT

Red List (low evidence)

TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 26 panels

3 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Red List (low evidence)

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 (Genomics England Curator)

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)

Red List (low evidence)

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 Red
Created: 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 given
Created: 5 Dec 2018, 2:58 p.m.

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 (Genomics England Curator)

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