Aortopathy_Connective Tissue Disorders
Gene: MFAP5
PMID: 33807627 Encica S 2021, PMID: 33514025 Creamer TJ 2021: nothing new since last PanelApp review
Creamer TJ 2021 cites 3 papers, 2 are not about variants, PMID: 29524629 Craft CS 2018 is a bit of a review of disease association, nothing new or concrete, as they have not found any other variants in this gene. Animal models also are not conclusive.
ClinGen 2016: moderate, mostly used Barbier 2014, that had been cited on the previous review in PanelApp as amber, functional don’t seem very strong to definitely show gene-disease association
ClinVar: mutation spectrum P/LP Frameshift(1) Missense(2) Nonsense(2) Splice site(0) ncRNA(5).
2 from Barbier, plus 2 from Baylor (clinical) in affected individuals. Doesn’t sound like enough evidence here
Summary: recent evidence cannot make it green yetCreated: 21 Apr 2021, 3:35 a.m. | Last Modified: 21 Apr 2021, 3:35 a.m.
Panel Version: 1.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aortic aneurysm, familial thoracic 9 (MIM#616166)
Publications
2 families described with thoracic aortic aneurysms and dissections, one with a nonsense variant and one with a missense (PMID:2544006). A recent review doesn't mention any other cases (PMID:30763214).
Sources: LiteratureCreated: 1 Jul 2020, 6:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Aortic aneurysm, familial thoracic MIM# 616166
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MFAP5 were changed from Aortic aneurysm, familial thoracic MIM# 616166 to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514
Publications for gene: MFAP5 were set to 25434006; 30763214
Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Gene: mfap5 has been classified as Amber List (Moderate Evidence).
gene: MFAP5 was added gene: MFAP5 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: MFAP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MFAP5 were set to 25434006; 30763214 Phenotypes for gene: MFAP5 were set to Aortic aneurysm, familial thoracic MIM# 616166 Review for gene: MFAP5 was set to AMBER gene: MFAP5 was marked as current diagnostic