Inherited white matter disorders
Gene: TMEM106B
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
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.
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
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TMEM106B were changed from Leukodystrophy, hypomyelinating 16, MIM#617964 to Leukodystrophy, hypomyelinating, 16, OMIM:617964; Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tag missense tag was added to gene: TMEM106B.
Publications for gene: TMEM106B were set to 29186371, 29444210
Mode of pathogenicity for gene: TMEM106B was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: tmem106b has been classified as Green List (High Evidence).
Gene: tmem106b has been classified as Red List (Low Evidence).
TMEM106B was added to Inherited white matter disorders panel. Sources: Expert list
TMEM106B was created by Zornitza Stark