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Intellectual disability v3.1513 PRKD1 Arina Puzriakova Tag for-review was removed from gene: PRKD1.
Intellectual disability v3.1510 PRKD1 Sarah Leigh commented on gene: PRKD1
Intellectual disability v3.1509 PRKD1 Arina Puzriakova Source Expert Review Amber was added to PRKD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Intellectual disability v3.369 PRKD1 Arina Puzriakova changed review comment from: Gene included previously in context of publication by Sifrim et al. (2016) (PMID: 27479907).
However, re-evaluation of this paper showed that only two of the three patients had ID, which may possibly be associated with microcephaly. The two individuals carried a c.1774G>A and c.896T>G variant, respectively; however, a third patient also harbouring the c.1774G>A variant did not display any neuropsychological signs (or microcephaly) at 4.86 years (see supplementary table 12).

A recent report (PMID: 32817298, 2020) describes two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, respectively. These patients shared cardiac and ectodermal abnormalities, as with the previously described patients; however, mental development was normal in both individuals.; to: Gene included previously in context of publication by Sifrim et al. (2016) (PMID: 27479907).
However, re-evaluation of this paper showed that only two of the three patients had ID, which may possibly be associated with microcephaly. The two individuals carried a c.1774G>A and c.896T>G variant, respectively; however, a third patient also harbouring the c.1774G>A variant did not display any neuropsychological signs (or microcephaly) at 4.86 years (see supplementary table 12, and figure 3).

A recent report (PMID: 32817298, 2020) describes two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, respectively. These patients shared cardiac and ectodermal abnormalities, as with the previously described patients; however, mental development was normal in both individuals.
Intellectual disability v3.369 PRKD1 Arina Puzriakova Classified gene: PRKD1 as Green List (high evidence)
Intellectual disability v3.369 PRKD1 Arina Puzriakova Added comment: Comment on list classification: This gene has been flagged for review at the date of next GMS panel update (added 'for-review' tag).

Only 2/5 patients exhibit features of ID, both of whom were also the only microcephalic cases, indicating the possibility of additional contributing factors. Therefore, a rating downgrade from Green to Amber may be warranted.
Intellectual disability v3.369 PRKD1 Arina Puzriakova Gene: prkd1 has been classified as Green List (High Evidence).
Intellectual disability v3.368 PRKD1 Arina Puzriakova Publications for gene: PRKD1 were set to 27479907; 25529582
Intellectual disability v3.367 PRKD1 Arina Puzriakova Tag for-review tag was added to gene: PRKD1.
Intellectual disability v3.367 PRKD1 Arina Puzriakova reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27479907, 32817298; Phenotypes: Congenital heart defects and ectodermal dysplasia, 617364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.468 PRKD1 Louise Daugherty Source Victorian Clinical Genetics Services was added to PRKD1.
Intellectual disability PRKD1 BRIDGE consortium edited their review of PRKD1
Intellectual disability PRKD1 Louise Daugherty classified PRKD1 as amber
Intellectual disability PRKD1 Louise Daugherty commented on PRKD1
Intellectual disability PRKD1 BRIDGE consortium reviewed PRKD1