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BabyScreen+ newborn screening

Gene: MITF

Green List (high evidence)

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

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

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

History Filter Activity

29 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deafness tag was added to gene: MITF.

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mitf has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MITF were changed from Waardenburg syndrome to Waardenburg syndrome, type 2A, MIM# 193510; Deafness

6 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MITF was added gene: MITF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MITF were set to Waardenburg syndrome