Growth failure in early childhood
Gene: MRASAfter NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBERCreated: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 4:56 p.m. | Last Modified: 5 Oct 2022, 4:56 p.m.
Panel Version: 1.110
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (confirmed).
PMID: 28289718. 2 patients with a clinical diagnosis of Noonan syndrome were reported. Case 1: 15 yo girl with biventricular HCM that presented in infancy. She had short stature, facial dysmorphisms, global DD and cognitive disability. Parents are unaffected.
Case 2: 6 yo girl with cardiac hypertrophy, pulmonary valve stenosis, atrial septal defect, facial dysmorphisms, ptosis and DD. Both patients had de novo missense variants.
PMID: 31173466. 3 yo Japanese boy. Diagnosed with HCM during neonatal period, bilateral sensoineural hearing impairment, difficulty feeding at 4 months (poor weight gain), short stature, relative macrocephaly, height at 1 year 3 months was -3.0 SD, facial dysmorphisms. Patient had de novo missense variant.
PMID: 31108500. Case 1: North African Jewish descent. Birth length -1.1 SD, birth weight -1.1 SD. 14 months LV HCM. 15 months growth delay (height and weight -2.0 SD). Moderate hearing loss, mild global DD, GH deficiency. 2 years 3 months, height and weight was -2.0 SD and OCF +1.0 SD, facial dysmorphisms (suggestive of NS). Case 2: Germany. HCM, facial dysmorphisms and short neck.
PMID: 34080768. HCM at birth and facial dysmorphisms.
While there are >3 unrelated cases the patients in the article did not meet the criteria set out for this panel. This gene has been given an Amber rating for now.Created: 30 Sep 2021, 2:52 p.m. | Last Modified: 30 Sep 2021, 2:52 p.m.
Panel Version: 1.78
Other Rasopathy genes included in this panel. At least 6 unrelated individuals reported.
Sources: Expert ReviewCreated: 14 Aug 2021, 5:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 11, MIM#618499
Publications
Tag Q3_22_rating was removed from gene: MRAS. Tag Q3_22_expert_review was removed from gene: MRAS.
Tag Q4_21_expert_review was removed from gene: MRAS. Tag Q3_22_rating tag was added to gene: MRAS. Tag Q3_22_expert_review tag was added to gene: MRAS.
Tag Q4_21_expert_review tag was added to gene: MRAS.
Publications for gene: MRAS were set to 28289718; 31173466; 31108500
Gene: mras has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MRAS were changed from Noonan syndrome 11, MIM#618499 to Noonan syndrome 11, OMIM:618499
Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466
gene: MRAS was added gene: MRAS was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466 Phenotypes for gene: MRAS were set to Noonan syndrome 11, MIM#618499 Review for gene: MRAS was set to GREEN