Pneumothorax - familial

Gene: MFAP5

Red List (low evidence)

MFAP5 (microfibril associated protein 5)
EnsemblGeneIds (GRCh38): ENSG00000197614
EnsemblGeneIds (GRCh37): ENSG00000197614
OMIM: 601103, Gene2Phenotype
MFAP5 is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: MFAP5; Suggested initial gene rating: Amber; Evidence for inclusion: FTAA gene; Evidence for exclusion: Pneumothorax appears to be a rare/unassociated feature.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 2:37 p.m.

History Filter Activity

6 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MFAP5 was added gene: MFAP5 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: MFAP5 was set to