Malformations of cortical development
Gene: TMX2Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 2:02 p.m. | Last Modified: 20 Oct 2020, 2:02 p.m.
Panel Version: 2.14
Gene-disease association is established, but note cortical malformations reported in 5 of 14 families in these two publications, 4 of whom had the same variant.Created: 28 Aug 2020, 2:12 a.m. | Last Modified: 28 Aug 2020, 2:12 a.m.
Panel Version: 2.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 3:13 p.m. | Last Modified: 8 Mar 2022, 3:13 p.m.
Panel Version: 2.131
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for Primary microcephaly, cortical malformation and epileptic encephalopathy. At least 7 variants reported in at least 9 unrelated cases of Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730 (PMID 31735293; 31270415).Created: 22 Jun 2020, 2:19 p.m. | Last Modified: 22 Jun 2020, 2:19 p.m.
Panel Version: 2.7
Sources: LiteratureCreated: 22 Jun 2020, 2:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730
Publications
Tag for-review was removed from gene: TMX2.
Source Expert Review Green was added to TMX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: TMX2 were changed from Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730 to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
Gene: tmx2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: TMX2.
Gene: tmx2 has been classified as Green List (High Evidence).
gene: TMX2 was added gene: TMX2 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMX2 were set to 31586943; 31735293; 31270415 Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 618730 Review for gene: TMX2 was set to GREEN