Microcephaly
Gene: TSEN2
PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findingsCreated: 27 Feb 2022, 11:27 p.m. | Last Modified: 27 Feb 2022, 11:27 p.m.
Panel Version: 1.106
Total 4 individuals from 3 families with microcephaly but only one has an actual head circumference measurement/value.
PMID 23562994: 1 boy with progressive microcephaly (-11.4 SD by age 3) reported with chet variants.
PMID 20952379: 3 affected individuals from 2 families were microcephalic but no measurements were provided (microcephaly is defined in another section of the paper as < -2SD).Created: 2 Sep 2020, 9:47 a.m. | Last Modified: 2 Sep 2020, 9:47 a.m.
Panel Version: 0.335
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 2B (MIM#612389)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: tsen2 has been classified as Green List (High Evidence).
Gene: tsen2 has been classified as Green List (High Evidence).
Gene: tsen2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TSEN2 were changed from to Pontocerebellar hypoplasia type 2B (MIM#612389)
Publications for gene: TSEN2 were set to
Mode of inheritance for gene: TSEN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: tsen2 has been classified as Amber List (Moderate Evidence).
gene: TSEN2 was added gene: TSEN2 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TSEN2 was set to Unknown