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Hearing loss

Gene: MAFB

Red List (low evidence)

MAFB (MAF bZIP transcription factor B)
EnsemblGeneIds (GRCh38): ENSG00000204103
EnsemblGeneIds (GRCh37): ENSG00000204103
OMIM: 608968, Gene2Phenotype
MAFB is in 7 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#166300:Multicentric carpotarsal osteolysis syndrome[Maxillary hypoplasiaMicrognathia; Exophthalmos; NephropathyHypertensionRenal failure; Osteopenia; Ulnar deviation of handsWrist swellingWrist arthralgiaCarpal bone osteolysisMetacarpal osteolysis; Pes cavusAnkle swellingAnkle arthralgiaTarsal bone osteolysisMetatarsal osteolysis; Ankle swellingWrist swelling; Proteinuria]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MAFB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert