Description
This panel was developed and is maintained by VCGS.

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 Green List (high evidence)
GNAS
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HOXD13
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PDE4D
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PRKAR1A
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PRMT7
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PTHLH
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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 Green List (high evidence)
TBCE
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Amber 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 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

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