Monogenic hearing loss
Gene: MASP1EnsemblGeneIds (GRCh38): ENSG00000127241
EnsemblGeneIds (GRCh37): ENSG00000127241
OMIM: 600521, Gene2Phenotype
MASP1 is in 9 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is a confirmed DD gene for 3MC syndrome.Created: 17 Feb 2016, 5 p.m.
Jun Shen (Harvard Medical School)
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]
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from OMIM and expertCreated: 1 Feb 2016, 5 p.m.
Maria Bitner-Glindzicz (UCL)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- #257920: 3MC syndrome 1
- OMIM
- 600521
- Clinvar variants
- Variants in MASP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MASP1 were set to #257920: 3MC syndrome 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MASP1 were set to PMID:10475605; 10946292; 11485744; 17937425; 18266249; 19564340; 21035106; 21258343; 22966085; 7759119; 8018603; 8240317; 8921412
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for MASP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MASP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory