GNAS

GNAS complex locus
OMIM: 139320
PanelMode of inheritanceDetails
9 panels
R-numbers: R145
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
103580, pseudohypoparathyroidism type 1a 103580, pseudohypoparathyroidism type 1a
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
GNAS HYPERFUNCTION 139320, PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233, ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
GNAS HYPERFUNCTION, ALBRIGHT HEREDITARY OSTEODYSTROPHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM TYPE 1B
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pseudohypoparathyroidism Ia, 103580McCune-Albright syndrome, 174800Pseudohypoparathyroidism Ic, 612462Osseous heteroplasia, progressive, 166350Pseudohypoparathyroidism Ib, 603233Prolonged bleeding time, brachydactyly and mental retardationAcromegaly, 102200Pseudopseudohypoparathyroidism, 612463Prolonged bleeding time, brachydactyly, and mental retardationACTH-independent macronodular adrenal hyperplasia, 219080, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (AIMAH)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
ACTH-independent macronodular adrenal hyperplasia 219080 IC, McCune-Albright syndrome, somatic, mosaic 174800, Osseous heteroplasia, progressive 166350, Pseudohypoparathyroidism Ia 103580, Pseudohypoparathyroidism Ib 603233, Pseudohypoparathyroidism Ic 612462, Pseudopseudohypoparathyroidism 612463
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
McCune-Albright syndrome
R-numbers: R149
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Congenital Obesity, Pseudohypoparathyroidism Ia, 103580, Pseudohypoparathyroidism Ib, 603233, Pseudohypoparathyroidism Ic, 612462
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Pseudohypoparathyroidism Ia 103580, Pseudopseudohypoparathyroidism 612463, Osseous heteroplasia, progressive 166350, Pseudohypoparathyroidism Ib 603233, Pseudohypoparathyroidism Ic 612462, ACTH-independent macronodular adrenal hyperplasia 219080 IC, McCune-Albright syndrome, somatic, mosaic 174800