| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Severe microcephaly v4.6 | TRAPPC10 |
Achchuthan Shanmugasundram changed review comment from: Biallelic variants in TRAPPC10 have been identified in two unrelated consanguineous Pakistani families that have been reported with severe microcephalic neurodevelopmental disorder. In addition, neuroanatomical brain defects and microcephaly, paralleling findings seen in the human patients were seen in Trappc9-/- mouse model. This gene has been associated with relevant phenotypes in both OMIM (MIM #620027) and Gene2Phenotype (with 'limited' rating).; to: Biallelic variants in TRAPPC10 have been identified in two unrelated consanguineous Pakistani families that have been reported with severe microcephalic neurodevelopmental disorder. In addition, neuroanatomical brain defects and microcephaly (paralleling findings seen in the human patients) were seen in Trappc9-/- mouse model. This gene has been associated with relevant phenotypes in both OMIM (MIM #620027) and Gene2Phenotype (with 'limited' rating). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.293 | TRAPPC9 | Eleanor Williams Tag Q2_21_rating was removed from gene: TRAPPC9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | TRAPPC9 | Sarah Leigh commented on gene: TRAPPC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | TRAPPC9 |
Eleanor Williams Source Expert Review Green was added to TRAPPC9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.155 | TRAPPC9 | Arina Puzriakova Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763; 30853973 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.154 | TRAPPC9 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: TRAPPC9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.154 | TRAPPC9 | Arina Puzriakova Classified gene: TRAPPC9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.154 | TRAPPC9 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 32 affected individuals from 9 families have been reported worldwide. Variable degrees of microcephaly are reported in almost all subjects and there are enough unrelated cases with sufficiently severe microcephaly to include as diagnostic-grade on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.154 | TRAPPC9 | Arina Puzriakova Gene: trappc9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.153 | TRAPPC9 | Arina Puzriakova Phenotypes for gene: TRAPPC9 were changed from Mental retardation, autosomal recessive 13, MIM# 613192 to Mental retardation, autosomal recessive 13, OMIM:613192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | TRAPPC9 |
Zornitza Stark gene: TRAPPC9 was added gene: TRAPPC9 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763; 30853973 Phenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, MIM# 613192 Review for gene: TRAPPC9 was set to GREEN gene: TRAPPC9 was marked as current diagnostic Added comment: Microcephaly is part of the phenotype. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||