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Fetal anomalies v0.4701 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Fetal anomalies v0.4701 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4701 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Fetal anomalies v0.4701 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.4699 MINPP1 Krithika Murali gene: MINPP1 was added
gene: MINPP1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696; 33168985
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16 - MIM#619527
Review for gene: MINPP1 was set to GREEN
Added comment: Biallelic LoF variants associated with pontocerebellar hypoplasia. Early-onset progressive microcephaly is a phenotypic feature with one affected individual reported to have prenatal evidence of microcephaly associated with increased thalami echogenicity (PMID 33257696)
Sources: Literature