Surfactant deficiency
Gene: TERT
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
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.
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.
Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: tert has been classified as Red List (Low Evidence).
Source Expert Review Amber was added to TERT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: TERT was added gene: TERT was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: TERT was set to