| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | PIH1D3 | Achchuthan Shanmugasundram reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28041644, 28176794; Phenotypes: X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PIH1D3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PIH1D3. Publications for gene: PIH1D3 were updated from 28041644 to 28041644; 28176794 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.72 | PIH1D3 | Arina Puzriakova commented on gene: PIH1D3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.72 | PIH1D3 | Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.78 | PIH1D3 | Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.; to: Original DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | PIH1D3 | Rebecca Foulger commented on gene: PIH1D3: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PIH1D3 | Rebecca Foulger reviewed gene: PIH1D3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PIH1D3 |
Rebecca Foulger gene: PIH1D3 was added gene: PIH1D3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIH1D3 were set to 28041644 Phenotypes for gene: PIH1D3 were set to X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||