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Fetal anomalies v2.0 NACC1 Gene migrated from ENSG00000160877 to ENSG00000160877 (gene set migration)
Fetal anomalies v0.4256 NACC1 Zornitza Stark Deleted their comment
Fetal anomalies v0.4256 NACC1 Zornitza Stark edited their review of gene: NACC1: Changed rating: GREEN
Fetal anomalies v0.4235 NACC1 Alison Yeung Marked gene: NACC1 as ready
Fetal anomalies v0.4235 NACC1 Alison Yeung Gene: nacc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4235 NACC1 Alison Yeung Added comment: Comment on phenotypes: Fetal anomalies reported include cataracts (5/7 patients) and microcephaly (5/7) patients
Fetal anomalies v0.4235 NACC1 Alison Yeung Phenotypes for gene: NACC1 were changed from Infantile Epilepsy, Cataracts, and Profound Developmental Delay to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, MIM# 617393)
Fetal anomalies v0.4234 NACC1 Alison Yeung Publications for gene: NACC1 were set to
Fetal anomalies v0.4233 NACC1 Alison Yeung Mode of inheritance for gene: NACC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 NACC1 Zornitza Stark gene: NACC1 was added
gene: NACC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay