Genomics England
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Genes and Entities

Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis (Version: )

Relevant disorders: R293
Signed off date: 14 Sept 2023
Panel types: GMS Rare Disease, GMS signed-off
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3 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
GNAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PDE4D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRKAR1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A