Possible mitochondrial disorder - nuclear genes
Gene: NNTComment on list classification: This gene was demoted from Amber to Red, due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 2:02 p.m.
Updated information and Red review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Not considered pimary mitochondrial disease, so classified as redCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736
Gene: nnt has been classified as Red List (Low Evidence).
Publications for gene: NNT were set to
Gene: nnt has been classified as Red List (Low Evidence).
gene: NNT was added gene: NNT was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736