Monogenic hearing loss
Gene: MASP1Comment on list classification: Is a confirmed DD gene for 3MC syndrome.Created: 17 Feb 2016, 5 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#257920:3MC syndrome 1[Postnatal growth retardation; MicrocephalyLarge anterior fontanel; Hypoplastic supraorbital ridges; Hearing loss, conductive; BlepharophimosisBlepharoptosisEpicanthus inversusHypertelorismHigh-arched eyebrowsConjunctival telangiectasiaGlaucomaAnterior chamber anomaliesAbnormal eye motility; Cleft lipCleft palate; Dental crowding; Accessory nipple; Periumbilical depressionOmphalocele; Hydronephrosis; Craniosynostosis (lambdoid and coronal sutures)Skull asymmetry; Spina bifida occulta; Radioulnar synostosis; Short fifth fingerFifth finger clinodactylyFifth finger single interphalangeal crease; Short, broad feet; Sacral dimple; Mental retardation, mild]
Comment on list classification: Good evidence from OMIM and expertCreated: 1 Feb 2016, 5 p.m.
Causes 3 MC syndrome which is unlikely to be missed but does cause deafness. I would want to know about a Tier 1 variant in this gene.Created: 19 Oct 2015, 6:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for MASP1 were set to #257920: 3MC syndrome 1
Publications for MASP1 were set to PMID:10475605; 10946292; 11485744; 17937425; 18266249; 19564340; 21035106; 21258343; 22966085; 7759119; 8018603; 8240317; 8921412
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MASP1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
MASP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory