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Hearing loss

Gene: MASP1

Green List (high evidence)

MASP1 (mannan binding lectin serine peptidase 1)
EnsemblGeneIds (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)

Green List (high evidence)

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 expert
Created: 1 Feb 2016, 5 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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

17 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MASP1 were set to #257920: 3MC syndrome 1

17 Feb 2016, Gel status: 4

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

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for MASP1 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MASP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory