Severe microcephalyGene: PDCD6IP
Comment on list classification: Phenotype is relevant to this panel with a supportive animal model that recapitulates features such as microcephaly. However, additional cases required to validate pathogenicity prior to inclusion as diagnostic-grade. Therefore Rating Amber, awaiting further publications.
Created: 4 Jun 2021, 12:21 p.m. | Last Modified: 4 Jun 2021, 12:21 p.m.
Panel Version: 2.202
One consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies. Borderline Red/Amber rating in view of the supportive animal model data.
Sources: Expert list
Created: 3 Sep 2020, 1:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag watchlist tag was added to gene: PDCD6IP.
Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).
gene: PDCD6IP was added gene: PDCD6IP was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD6IP were set to 32286682 Phenotypes for gene: PDCD6IP were set to Primary microcephaly Review for gene: PDCD6IP was set to AMBER