Interstitial Lung Disease
Gene: MARS
Agree with other reviewer's comments.Created: 6 Nov 2021, 6:26 a.m. | Last Modified: 6 Nov 2021, 6:26 a.m.
Panel Version: 0.183
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FTT, anaemia, liver disease, developmental delay; Childhood ILD and PAP
Publications
Comment when marking as ready: New HGNC approved name is MARS1.Created: 8 Oct 2021, 2:38 a.m. | Last Modified: 8 Oct 2021, 2:38 a.m.
Panel Version: 0.33
Autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.
Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis.
Sources: Expert listCreated: 1 Nov 2020, 7:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Interstitial lung and liver disease, MIM#615486
Publications
Publications for gene: MARS were set to 24103465; 25913036
Gene: mars has been classified as Green List (High Evidence).
Phenotypes for gene: MARS were changed from to Interstitial lung and liver disease, MIM#615486
Publications for gene: MARS were set to
Mode of inheritance for gene: MARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: MARS was added gene: MARS was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MARS was set to Unknown