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| Additional findings_Adult v1.91 | PALB2 | Zornitza Stark Phenotypes for gene: PALB2 were changed from {Breast cancer, susceptibility to} 114480 to {Breast cancer, susceptibility to} 114480; Fanconi anaemia, complementation group N, MIM# 610832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.90 | PALB2 | Zornitza Stark Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.89 | PALB2 |
Zornitza Stark edited their review of gene: PALB2: Added comment: Association between biallelic variants and FA: MODERATE actionability by ClinGen. In the absence of congenital anomalies, presentation can be in adulthood with BMF and surveillance by haematologist is warranted to optimise timing of BMT.; Changed phenotypes: {Breast cancer, susceptibility to} 114480, Fanconi anaemia, complementation group N, MIM# 610832; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Additional findings_Adult v0.124 | PALB2 | Zornitza Stark Marked gene: PALB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.124 | PALB2 | Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.124 | PALB2 | Zornitza Stark Classified gene: PALB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.124 | PALB2 | Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.123 | PALB2 |
Zornitza Stark gene: PALB2 was added gene: PALB2 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PALB2 were set to 34012068 Phenotypes for gene: PALB2 were set to {Breast cancer, susceptibility to} 114480 Review for gene: PALB2 was set to GREEN Added comment: Included in ACMG V3.0 as risk of breast cancer meets penetrance threshold. Sources: Expert list |
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