GNAS

GNAS complex locus
OMIM: 139320
PanelMode of inheritanceDetails
10 panels
R-numbers: R293
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R145
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580, MCCUNE-ALBRIGHT SYNDROME, OMIM:174800, PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ib, OMIM:603233, pseudohypoparathyroidism type 1B, MONDO:0011301, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, McCune-Albright syndrome, somatic, mosaic, OMIM:174800, panostotic fibrous dysplasia, MONDO:0043168, Osseous heteroplasia, progressive, OMIM:166350, progressive osseous heteroplasia, MONDO:0008153, ACTH-independent macronodular adrenal hyperplasia. OMIM:219080, ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ib, OMIM:603233, pseudohypoparathyroidism type 1B, MONDO:0011301, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, McCune-Albright syndrome, somatic, mosaic, OMIM:174800, panostotic fibrous dysplasia, MONDO:0043168, Osseous heteroplasia, progressive, OMIM:166350, ACTH-independent macronodular adrenal hyperplasia. OMIM:219080, ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
McCune-Albright syndrome, somatic, mosaic, OMIM:174800, panostotic fibrous dysplasia, MONDO:0043168
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
103580, pseudohypoparathyroidism type 1a 103580, pseudohypoparathyroidism type 1a
R-numbers: R149
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pseudohypoparathyroidism Ia, OMIM:103580, pseudohypoparathyroidism type 1A, MONDO:0007078, Pseudohypoparathyroidism Ib, OMIM:603233, pseudohypoparathyroidism type 1B, MONDO:0011301, Pseudohypoparathyroidism Ic, OMIM:612462, pseudohypoparathyroidism type 1C, MONDO:0012911, McCune-Albright syndrome, somatic, mosaic, OMIM:174800, panostotic fibrous dysplasia, MONDO:0043168, Osseous heteroplasia, progressive, OMIM:166350, ACTH-independent macronodular adrenal hyperplasia. OMIM:219080, ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735, Pseudopseudohypoparathyroidism, OMIM:612463, pseudopseudohypoparathyroidism, MONDO:0012912