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| Growth failure in early childhood v2.33 | MRAS |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: MRAS. Tag Q3_22_expert_review was removed from gene: MRAS. |
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| Growth failure in early childhood v2.33 | MRAS | Catherine Snow commented on gene: MRAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.110 | MRAS | Eleanor Williams commented on gene: MRAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.110 | MRAS |
Eleanor Williams 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. |
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| Growth failure in early childhood v1.90 | MRAS | Ivone Leong Tag Q4_21_expert_review tag was added to gene: MRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.79 | MRAS | Ivone Leong Publications for gene: MRAS were set to 28289718; 31173466; 31108500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.78 | MRAS | Ivone Leong Classified gene: MRAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.78 | MRAS |
Ivone Leong Added comment: 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. |
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| Growth failure in early childhood v1.78 | MRAS | Ivone Leong Gene: mras has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.77 | MRAS | Ivone Leong Phenotypes for gene: MRAS were changed from Noonan syndrome 11, MIM#618499 to Noonan syndrome 11, OMIM:618499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.76 | MRAS | Ivone Leong Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.71 | MRAS |
Zornitza Stark 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 Added comment: Other Rasopathy genes included in this panel. At least 6 unrelated individuals reported. Sources: Expert Review |
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