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Pituitary hormone deficiency v4.10 GHR Ida Ertmanska Tag treatable tag was added to gene: GHR.
Pituitary hormone deficiency v4.10 GHR Ida Ertmanska commented on gene: GHR: NHS Clinical Commissioning Policy: Mecasermin for treatment of growth failure (April 2013): "The NHS Commissioning Board (NHS CB) will commission mecasermin for children and adolescents with growth failure due to severe primary insulin-like growth factor1 deficiency (SPIGFD)" - treatable tag has been added.
Pituitary hormone deficiency v4.10 GHR Ida Ertmanska commented on gene: GHR: NHS Clinical Commissioning Policy: Mecasermin for treatment of growth failure (April 2013): "The NHS Commissioning Board (NHS CB) will commission mecasermin for children and adolescents with growth failure due to severe primary insulin-like growth factor1 deficiency (SPIGFD)" - treatable tag has been added.
Pituitary hormone deficiency v4.9 GHR Eleanor Williams Phenotypes for gene: GHR were changed from Laron dwarfism, OMIM:262500; Growth hormone insensitivity, partial, OMIM:604271; Increased responsiveness to growth hormone, OMIM:604271 to Laron dwarfism, OMIM:262500; Growth hormone insensitivity, partial, OMIM:604271; I Laron syndrome, MONDO:0009877; short stature due to partial GHR deficiency, MONDO:0011420 ncreased responsiveness to growth hormone, OMIM:604271
Pituitary hormone deficiency v4.8 GHR Ida Ertmanska Publications for gene: GHR were set to
Pituitary hormone deficiency v4.7 GHR Ida Ertmanska Tag Q2_26_MOI tag was added to gene: GHR.
Pituitary hormone deficiency v4.7 GHR Ida Ertmanska commented on gene: GHR: Comment on mode of inheritance: There are numerous individuals reported with biallelic GHR variants and Laron dwarfism - proportionate severe short stature (often -5 to -12 SDS) stemming from primary resistance to growth hormone. In addition, there are at least 6 unrelated probands with heterozygous GHR variants that have milder presentation than Laron dwarfism, yet with short stature more severe than -3 SD. There is good evidence of short stature segregating with GHR variants in a dominant manner in these families, though with variable severity. Based on available evidence, the mode of inheritance should be changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Pituitary hormone deficiency v4.7 GHR Ida Ertmanska reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 21900382, 33912130, 34453441, 36943306, 37474955; Phenotypes: Laron dwarfism, OMIM:262500, Growth hormone insensitivity, partial, OMIM:604271; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pituitary hormone deficiency v2.106 GHR Catherine Snow Tag Q1_23_demote_red was removed from gene: GHR.
Tag Q1_23_expert_review was removed from gene: GHR.
Pituitary hormone deficiency v2.106 GHR Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsGREEN.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains GREEN
Pituitary hormone deficiency v2.106 GHR Catherine Snow commented on gene: GHR
Pituitary hormone deficiency v2.104 GHR Arina Puzriakova changed review comment from: Review submitted on behalf of Helen Storr - "This gene is currently on panel R159.1 Pituitary hormone deficiency. It should be removed from this panel as it does not cause GH deficiency - it is causes defective GH signalling."

Variants in this gene confer dysfunction of the growth hormone receptor resulting in altered signalling. GH levels are typically normal or increased and therefore inclusion of GHR on this panel should be re-evaluated by the GMS Endocrinology Specialist Test Group.

This gene may possibly be more appropriate for R147 Growth failure in early childhood, but this is currently also pending expert review (https://panelapp.genomicsengland.co.uk/panels/473/gene/GHR/); to: Review submitted on behalf of Helen Storr - "This gene is currently on panel R159.1 Pituitary hormone deficiency. It should be removed from this panel as it does not cause GH deficiency - it is causes defective GH signalling."

Variants in this gene confer dysfunction of the growth hormone receptor resulting in altered signalling. GH levels are typically normal or increased and therefore inclusion of GHR on this panel should be re-evaluated by the GMS Endocrinology Specialist Test Group.

GHR may possibly be more appropriate for R147 Growth failure in early childhood, but relevance is currently also pending expert review (https://panelapp.genomicsengland.co.uk/panels/473/gene/GHR/)
Pituitary hormone deficiency v2.104 GHR Arina Puzriakova changed review comment from: Review submitted on behalf of Helen Storr - "This gene is currently on panel R159.1 Pituitary hormone deficiency. It should be removed from this panel as it does not cause GH deficiency - it is causes defective GH signalling."

Variants in this gene confer dysfunction of the growth hormone receptor resulting in altered signalling. GH levels are typically normal or increased and therefore inclusion of GHR on this panel should be re-evaluated by the GMS Endocrinology Specialist Test Group.; to: Review submitted on behalf of Helen Storr - "This gene is currently on panel R159.1 Pituitary hormone deficiency. It should be removed from this panel as it does not cause GH deficiency - it is causes defective GH signalling."

Variants in this gene confer dysfunction of the growth hormone receptor resulting in altered signalling. GH levels are typically normal or increased and therefore inclusion of GHR on this panel should be re-evaluated by the GMS Endocrinology Specialist Test Group.

This gene may possibly be more appropriate for R147 Growth failure in early childhood, but this is currently also pending expert review (https://panelapp.genomicsengland.co.uk/panels/473/gene/GHR/)
Pituitary hormone deficiency v2.104 GHR Arina Puzriakova Tag Q1_23_demote_red tag was added to gene: GHR.
Tag Q1_23_expert_review tag was added to gene: GHR.
Pituitary hormone deficiency v2.104 GHR Arina Puzriakova commented on gene: GHR
Pituitary hormone deficiency v2.104 GHR Arina Puzriakova Phenotypes for gene: GHR were changed from Laron dwarfism (262500); Increased responsiveness to growth hormone (604271); Growth hormone insensitivity, partial (604271) to Laron dwarfism, OMIM:262500; Growth hormone insensitivity, partial, OMIM:604271; Increased responsiveness to growth hormone, OMIM:604271
Pituitary hormone deficiency v0.71 GHRHR Ivone Leong commented on gene: GHRHR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 GHR Ivone Leong commented on gene: GHR: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.66 GHR Ivone Leong Marked gene: GHR as ready
Pituitary hormone deficiency v0.66 GHR Ivone Leong Gene: ghr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.66 GHR Ivone Leong Classified gene: GHR as Green List (high evidence)
Pituitary hormone deficiency v0.66 GHR Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GHR is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities (Version 1.25) panel. There are >3 unrelated cases of patients with Laron syndrome who have variants in the GHR gene listed in OMIM.
Pituitary hormone deficiency v0.66 GHR Ivone Leong Gene: ghr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GHRHR Ivone Leong Marked gene: GHRHR as ready
Pituitary hormone deficiency v0.65 GHRHR Ivone Leong Gene: ghrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.58 GHRH Ivone Leong commented on gene: GHRH
Pituitary hormone deficiency v0.58 GHRH Ivone Leong Publications for gene: GHRH were set to
Pituitary hormone deficiency v0.10 GHRHR Ivone Leong commented on gene: GHRHR
Pituitary hormone deficiency v0.10 GHRHR Ivone Leong Mode of inheritance for gene: GHRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.7 GHRHR Ivone Leong gene: GHRHR was added
gene: GHRHR was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GHRHR was set to Unknown
Phenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV (618157)
Pituitary hormone deficiency v0.7 GHRH Ivone Leong gene: GHRH was added
gene: GHRH was added to Pituitary hormone deficiency. Sources: Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GHRH was set to Unknown
Phenotypes for gene: GHRH were set to ?Isolated growth hormone deficiency due to defect in GHRF; No OMIM number
Pituitary hormone deficiency v0.7 GHR Ivone Leong gene: GHR was added
gene: GHR was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron dwarfism (262500); Increased responsiveness to growth hormone (604271); Growth hormone insensitivity, partial (604271)