Description
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Panel Activity

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (University of Nottingham)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

23 Entities

22 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
23 Entitiess
Green Green List (high evidence)
ABALON
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Tags
  • ensembl_ids_known_missing
Green Green List (high evidence)
HTRA1
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • test source 1
  • test source 2
  • UKGTN
Phenotypes
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
  • CARASIL syndrome 600142
  • new phenotype 1
  • new phenotype 2
Tags
Amber Amber List (moderate evidence)
KALRN
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • test updating phenotype
Tags
Amber Amber List (moderate evidence)
PRSS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Tags
  • ensembl_ids_known_missing
Amber Amber List (moderate evidence)
SLC10A4
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Tags
Red Red List (low evidence)
blah_test
STR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • test
Tags
Red Red List (low evidence)
BRCA1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Other
Tags
Red Red List (low evidence)
FXN_GAA
STR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Test
Phenotypes
  • Friedreich ataxia 229300
Tags
Red Red List (low evidence)
HLA-DRB4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
Tags
  • ensembl_ids_known_missing
Red Red List (low evidence)
LHX3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • GH, TSH, LH, FSH, PRL deficiency limited neck rotation short cervical spine sensorineural deafness anterior pituitary may be normal, hypoplastic or enlarged Pituitary hormone deficiency, combined, 3, 221750
Tags
Red Red List (low evidence)
MIR936
1 review
 Unknown
Sources
  • Other
Tags
Red Red List (low evidence)
MSMB
1 review
 Unknown
Sources
  • Other
Tags
Red Red List (low evidence)
NOP56_GGCCTG
STR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Test
Phenotypes
  • Spinocerebellar ataxia 36 614153
Tags
Red Red List (low evidence)
ORAI1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
Tags
Red Red List (low evidence)
PADI6
1 review
 Unknown
Sources
  • Other
Tags
Red Red List (low evidence)
PLPBP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Tags
Red Red List (low evidence)
PPP2R2B_CAG
STR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Test
Phenotypes
  • Spinocerebellar ataxia 12 604326
Tags
Red Red List (low evidence)
PROSC
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Tags
Red Red List (low evidence)
SBF1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
Phenotypes
  • test disorder for tagging
Tags
Red Red List (low evidence)
TBP_CAG
STR
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Test
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
Red Red List (low evidence)
TUBB8
1 review
 Unknown
Sources
  • Other
Tags
Red Red List (low evidence)
YAP1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coloboma, ocular, 120433
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433
Tags
No list No list
PYROXD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review
Phenotypes
  • TEST
Tags

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