Growth failure in early childhood
Gene: NBAS
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.100
There are >3 unrelated cases of patients with variants in NBAS who has short stature. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. This gene has been given an Amber review and tagged with "for-review" for the next major update of this panel.
Sources: Expert listCreated: 10 Aug 2020, 3:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Publications
Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800
Tag for-review was removed from gene: NBAS.
Source Expert Review Green was added to NBAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: nbas has been classified as Amber List (Moderate Evidence).
gene: NBAS was added gene: NBAS was added to Growth failure in early childhood. Sources: Expert list for-review tags were added to gene: NBAS. Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 31761904 Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Review for gene: NBAS was set to AMBER