BabyScreen+ newborn screening
Gene: MITF

MITF (melanogenesis associated transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000187098
EnsemblGeneIds (GRCh37): ENSG00000187098
OMIM: 156845, Gene2Phenotype
MITF is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note two families with bi-allelic variants reported, majority are mono-allelic.
Created: 6 Oct 2022, 12:15 a.m. | Last Modified: 6 Oct 2022, 12:15 a.m.

Panel Version: 0.331

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Waardenburg syndrome, type 2A, MIM# 193510; Deafness

Created: 6 Oct 2022, 12:15 a.m.
Last Modified: 6 Oct 2022, 12:15 a.m.
Panel version: 0.331

David Amor (Murdoch Children's Research Institute)

Green List (high evidence)

Gene-disease association: strong. 10-20% of WS

Severity: moderate (deafness and heterochromia are main features)

Age of onset: congenital

Treatment: deafness syndrome therefore include.

Note that most cases inherited rather than de novo
Created: 29 Sep 2022, 11:58 p.m. | Last Modified: 29 Sep 2022, 11:58 p.m.

Panel Version: 0.270

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Wardenburg syndrome type 2

Created: 29 Sep 2022, 11:58 p.m.
Last Modified: 29 Sep 2022, 11:58 p.m.
Panel version: 0.270

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category A gene

Phenotypes

Waardenburg syndrome, type 2A, MIM# 193510
Deafness

Tags

deafness

OMIM

156845

Clinvar variants

Variants in MITF

Penetrance

None

Panels with this gene