Genomics England
GMS Panels
Panels
Genes and Entities

GNAS

GNAS complex locus
OMIM: 139320
PanelMode of inheritanceDetails
9 panels
Green
in Congenital hypothyroidism
R-numbers: R145
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)
Green
in Craniosynostosis
R-numbers: R100
Signed-off version 3.1
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 3.1
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
GNAS HYPERFUNCTION, ALBRIGHT HEREDITARY OSTEODYSTROPHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM TYPE 1B
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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)
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
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
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
McCune-Albright syndrome
Green
in Severe early-onset obesity
R-numbers: R149
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Congenital Obesity, Pseudohypoparathyroidism Ia, OMIM:103580, Pseudohypoparathyroidism Ib, OMIM:603233, Pseudohypoparathyroidism Ic, OMIM:612462
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
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