Genomics England
GMS Panels
Panels
Genes and Entities
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis (Version:
2.0
1.0
)
Relevant disorders:
R293
,
GT582
,
TP386
Signed off date:
12 Aug 2026
Panel types:
GMS Rare Disease, GMS signed-off
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3 green entities
Entity rating
Entity
Mode of inheritance
Mode of pathogenicity
Tags
Green
GNAS
Unknown
N/A
N/A
Green
PDE4D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
N/A
N/A
Green
PRKAR1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
N/A
N/A