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  3. MFAP5
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Bleeding and Platelet Disorders

Gene: MFAP5

Amber List (moderate evidence)
MFAP5 (microfibril associated protein 5)
EnsemblGeneIds (GRCh38): ENSG00000197614
EnsemblGeneIds (GRCh37): ENSG00000197614
OMIM: 601103, Gene2Phenotype
MFAP5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported only.
Created: 15 Aug 2020, 6:38 a.m. | Last Modified: 15 Aug 2020, 6:38 a.m.
Panel Version: 0.112

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514

Publications

Created: 15 Aug 2020, 6:38 a.m.
Last Modified: 15 Aug 2020, 6:38 a.m.
Panel version: 0.219

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Aortic aneurysm, familial thoracic MIM# 616166
  • MONDO:0014514
OMIM
601103
Clinvar variants
Variants in MFAP5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MFAP5 were changed from Aortic aneurysm, familial thoracic MIM# 616166 to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514

15 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mfap5 has been classified as Amber List (Moderate Evidence).

15 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MFAP5 were changed from to Aortic aneurysm, familial thoracic MIM# 616166

15 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MFAP5 were set to

15 Aug 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MFAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mfap5 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MFAP5 was added gene: MFAP5 was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MFAP5 was set to Unknown