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Fetal anomalies v1.844 TUBA8 Arina Puzriakova Classified gene: TUBA8 as Amber List (moderate evidence)
Fetal anomalies v1.844 TUBA8 Arina Puzriakova Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.843 TUBA8 Arina Puzriakova Tag for-review was removed from gene: TUBA8.
Fetal anomalies v1.843 TUBA8 Arina Puzriakova commented on gene: TUBA8
Fetal anomalies v1.88 TUBA8 Catherine Snow Classified gene: TUBA8 as Green List (high evidence)
Fetal anomalies v1.88 TUBA8 Catherine Snow Added comment: Comment on list classification: Change from Amber to Green, as requested by NHSE for signed-off panel.
Fetal anomalies v1.88 TUBA8 Catherine Snow Gene: tuba8 has been classified as Green List (High Evidence).
Fetal anomalies v1.41 TUBA8 Rebecca Foulger Classified gene: TUBA8 as Amber List (moderate evidence)
Fetal anomalies v1.41 TUBA8 Rebecca Foulger Added comment: Comment on list classification: The reanalysis in PMID:28388629 casts doubt that TUBA8 is responsible for the morphological phenotypes initially reported in PMID:19896110. Only 2 families (of possible shared descent) were reported. Therefore insufficient evidence for Green rating. Downgraded from Green to Amber.
Fetal anomalies v1.41 TUBA8 Rebecca Foulger Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.40 TUBA8 Rebecca Foulger commented on gene: TUBA8: In 4 affected members of 2 consanguineous Pakistani families with MIM:613180, Abdollahi et al. (2009, PMID:19896110) identified a homozygous 14-bp deletion 11 bp upstream of the exon 2 splice site junction in TUBA8. The families may have common ancestory. All obligate carriers were heterozygous. The patients had neonatal hypotonia, profound mental retardation, essentially no psychomotor development, optic nerve hypoplasia, and thickened cortex with polymicrogyria and absent corpus callosum. BUT due to lack of a mouse TUBA8 phenotype, the authors in PMID:28388629 (Diggle et al 2017) reanalysed their patients from PMID:19896110 and found an additional LOF variant in SNAP29 (p.Ser163Lysfs*6). The authors suggest that SNAP29 deficiency, rather than TUBA8 deficiency, may be responsible for the patient phenotypes.
Fetal anomalies v1.40 TUBA8 Rebecca Foulger Phenotypes for gene: TUBA8 were changed from POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA; Cortical dysplasia, complex, with other brain malformations 8, 613180
Fetal anomalies v1.39 TUBA8 Rebecca Foulger Publications for gene: TUBA8 were set to
Fetal anomalies v1.38 TUBA8 Rebecca Foulger Tag for-review tag was added to gene: TUBA8.
Fetal anomalies v1.3 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.161 TUBA8 Rebecca Foulger edited their review of gene: TUBA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.9 TUBA8 Rebecca Foulger reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 TUBA8 Rebecca Foulger gene: TUBA8 was added
gene: TUBA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA