White matter disorders and cerebral calcification - narrow panel
Gene: TMEM106BThe rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 9 Mar 2022, 4:29 p.m. | Last Modified: 9 Mar 2022, 4:29 p.m.
Panel Version: 1.223
Comment on list classification: There are sufficient unrelated cases (6) to promote the rating to Green at the next GMS panel update - hypomyelinating leukodystrophy is the predominant feature of the disease presentation.Created: 12 Nov 2020, 4:47 p.m. | Last Modified: 12 Nov 2020, 4:47 p.m.
Panel Version: 1.21
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, 3:16 p.m. | Last Modified: 12 Nov 2020, 3:16 p.m.
Panel Version: 1.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating, 16 OMIM:617964
Publications
Five unrelated individuals reported with the same recurrent de novo missense variant in this gene, p.Asp252Asn. GoF mechanism postulated.Created: 16 Sep 2020, 5:11 a.m. | Last Modified: 16 Sep 2020, 5:11 a.m.
Panel Version: 1.14
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukodystrophy, hypomyelinating, 16 617964
Publications
Mode of pathogenicity
Other
Tag for-review was removed from gene: TMEM106B.
Source Expert Review Green was added to TMEM106B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Gene: tmem106b has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: TMEM106B.
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: TMEM106B was added gene: TMEM106B was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM106B were set to 29186371, 29444210 Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating 16, MIM#617964