1. Panels
  2. Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy

Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy (Version 0.13)

Level 2: Endocrine disorders

Relevant disorders: Pseudohypoparathyroidism, HP:0000093
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel was developed and is maintained by VCGS.
Panel Activity

1 reviewer

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

10 Entities

3 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green List (high evidence)
GNAS
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HOXD13
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PDE4D
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PRKAR1A
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PRMT7
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PTHLH
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
STX16
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohypoparathyroidism type 1b MIM#: 603233
Tags
  • SV/CNV
Green List (high evidence)
TBCE
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Amber List (moderate evidence)
HDAC4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly mental retardation syndrome
  • Brachydactyly without intellectual disability
Tags
Red List (low evidence)
GNAS-AS1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohypoparathyroidism type 1b MIM no: 603233
Tags
  • SV/CNV

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

Download Version