Inherited white matter disorders

Gene: TMEM106B

Green List (high evidence)

Comment on list classification: Promoting from Red to Green - sufficient unrelated cases (6), hypomyelinating leukodystrophy is the predominant feature of the disease presentation.

Created: 12 Nov 2020, 4:50 p.m. | Last Modified: 12 Nov 2020, 4:50 p.m.

Panel Version: 1.83

Associated with relevant phenotype in OMIM, and is a 'probable' gene for 'TMEM106B related hypomyelinating leukodystrophy' in Gene2Phenotype.

Recurrent variant c.754G>A p.(Asp252Asn) identified in 6 unrelated families from different ethnicities. Clinical characteristics include hypomyelinating leukodystrophy (6/6), nystagmus (6/6), hypotonia (5/6), cognitive impairment (5/6), movement disorder (3/6) and seizures (2/6).

Created: 12 Nov 2020, 4:49 p.m. | Last Modified: 12 Nov 2020, 4:49 p.m.

Panel Version: 1.82

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Leukodystrophy, hypomyelinating, 16 OMIM:617964

Publications

• 29186371
• 29444210
• 30643851
• 32595021

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Comment on list classification: This gene is awaiting curator evaluation and rating.

Created: 19 Dec 2018, 1:05 p.m.

Green List (high evidence)

Recurrent variant identified in 4 unrelated families from different ethnicities. One inherited from mosaic parent. Leukodystrophy is part of the phenotype.

Created: 24 Jul 2018, 11:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukodystrophy, hypomyelinating 16, MIM#617964

Publications

• 29186371, 29444210

Variants in this GENE are reported as part of current diagnostic practice