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Pituitary hormone deficiency v3.11 ROBO1 Arina Puzriakova Tag watchlist tag was added to gene: ROBO1.
Pituitary hormone deficiency v3.11 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28402530
Pituitary hormone deficiency v3.10 ROBO1 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303). OMIM have listed the all of the publications (PMID: 28402530; 31448886; 33270637) already previously considered by the GMS expert group and therefore no new evidence to support promotion from amber to green.; to: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303). OMIM have listed the all of the publications (PMID: 28402530; 31448886; 33270637) already previously considered by the GMS expert group and therefore there is no new evidence to support promotion from amber to green.
Pituitary hormone deficiency v3.10 ROBO1 Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303); to: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303). OMIM have listed the all of the publications (PMID: 28402530; 31448886; 33270637) already previously considered by the GMS expert group and therefore no new evidence to support promotion from amber to green.
Pituitary hormone deficiency v3.10 ROBO1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303)
Pituitary hormone deficiency v3.10 ROBO1 Arina Puzriakova Phenotypes for gene: ROBO1 were changed from pituitary stalk interruption syndrome, MONDO:0019828 to Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303
Pituitary hormone deficiency v3.9 KCNQ1 Achchuthan Shanmugasundram Tag Q1_24_NHS_review tag was added to gene: KCNQ1.
Pituitary hormone deficiency v3.9 KCNQ1 Achchuthan Shanmugasundram Publications for gene: KCNQ1 were set to 29097701
Pituitary hormone deficiency v3.8 KCNQ1 Achchuthan Shanmugasundram Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v3.8 KCNQ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 that this gene has insufficient evidence for promotion to green rating.

There is an additional case reported with a previously identified variant (p.Pro369Leu) and growth hormone deficiency. Hence, I am tagging this gene for expert review by the NHSE to assess whether this evidence is sufficient for promotion to green rating.
Pituitary hormone deficiency v3.8 KCNQ1 Achchuthan Shanmugasundram Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram commented on gene: KCNQ1: As reviewed by Suzanne Page, PMID:36077086 reports two unrelated cases with KCNQ1 variants in addition to the cases previously reported in PMID: 29097701 with pituitary hormone deficiency and maternally inherited gingival fibromatosis. The single individual reported in PMID:36077086 with p.Pro369Leu variant had growth hormone deficiency and postnatal growth retardation in addition to coarse facial features and early-onset gingival overgrowth. However, three members of the other family with p.Val185Met variant had only coarse facial features and early-onset gingival overgrowth.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36077086; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram Deleted their review
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 that this gene has insufficient evidence for promotion to green rating.

There is an additional case reported with a previously reported variant (p.Pro369Leu) and growth hormone deficiency. Hence, I am tagging this gene for expert review by the NHSE to assess whether this evidence is sufficient for promotion to green rating.; to: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 that this gene has insufficient evidence for promotion to green rating.

There is an additional case reported with a previously identified variant (p.Pro369Leu) and growth hormone deficiency. Hence, I am tagging this gene for expert review by the NHSE to assess whether this evidence is sufficient for promotion to green rating.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 to have insufficient evidence for promotion to green rating. Hence, I am tagging this gene for expert review by the NHSE.; to: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 that this gene has insufficient evidence for promotion to green rating.

There is an additional case reported with a previously reported variant (p.Pro369Leu) and growth hormone deficiency. Hence, I am tagging this gene for expert review by the NHSE to assess whether this evidence is sufficient for promotion to green rating.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 to have insufficient evidence for promotion to green rating. Hence, I am tagging this gene for expert review by the GLHs.; to: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 to have insufficient evidence for promotion to green rating. Hence, I am tagging this gene for expert review by the NHSE.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene was previously demoted from green to amber after being discussed and agreed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019 to have insufficient evidence for promotion to green rating. Hence, I am tagging this gene for expert review by the GLHs.
Pituitary hormone deficiency v3.7 KCNQ1 Achchuthan Shanmugasundram Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v3.6 KCNQ1 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: KCNQ1.
Tag Q1_24_expert_review tag was added to gene: KCNQ1.
Pituitary hormone deficiency v3.6 KCNQ1 Achchuthan Shanmugasundram Mode of inheritance for gene: KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v3.5 KCNQ1 Achchuthan Shanmugasundram reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36077086; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v3.5 KCNQ1 Suzanne Page changed review comment from: Bauer et al 2022 PMID: 36077086 - Identified a single individual with the KCNQ1 variant P369L and three family members with the V185M variant. All had gingival overgrowth. Tommiska et al 2017 (PMID: 29097701) have already identified 3 families affected with pituitary hormone deficiency and maternally inherited gingival fibromatosis. Bauer et al showed that all 3 variants impaired Ca2+ sensitivity of the mutant KCNQ1 channels. With low Ca2+, wild-type KCNQ1 currents were efficiently reduced and exhibited a pre-pulse-dependent cross-over of current traces and a high-voltage-activated component.; to: Bauer et al 2022 PMID: 36077086 - Identified a single individual with the KCNQ1 variant P369L and three family members with the V185M variant. All had gingival overgrowth. Tommiska et al 2017 (PMID: 29097701) have already identified 3 families affected with pituitary hormone deficiency and maternally inherited gingival fibromatosis. Bauer et al showed that all 3 variants impaired Ca2+ sensitivity of the mutant KCNQ1 channels. With low Ca2+, wild-type KCNQ1 currents were efficiently reduced and exhibited a pre-pulse-dependent cross-over of current traces and a high-voltage-activated component. They suggest that the impaired Ca2+ sensitivity of the KCNQ1 mutant channels R116L, V185M and P369L is causally related to their gain-of-function when forming heteromers with KCNE2.
Pituitary hormone deficiency v3.5 KCNQ1 Suzanne Page reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36077086; Phenotypes: Gingival overgrowth, with or without postnatal growth retardation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v3.2 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Holoprosencephaly 7 (610828) to Holoprosencephaly 7, OMIM:610828
Pituitary hormone deficiency v3.1 Sarah Leigh Panel version 3.0 has been signed off on 2023-03-22
Pituitary hormone deficiency v3.0 Sarah Leigh promoted panel to version 3.0
Pituitary hormone deficiency v2.106 RNPC3 Eleanor Williams Tag gene-checked tag was added to gene: RNPC3.
Pituitary hormone deficiency v2.106 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TBC1D32.
Pituitary hormone deficiency v2.106 SLC20A1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC20A1.
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 BRAF Catherine Snow Tag Q3_22_rating was removed from gene: BRAF.
Tag Q3_22_NHS_review was removed from gene: BRAF.
Pituitary hormone deficiency v2.106 RNPC3 Catherine Snow Tag Q3_22_rating was removed from gene: RNPC3.
Tag Q3_22_NHS_review was removed from gene: RNPC3.
Pituitary hormone deficiency v2.106 ROBO1 Catherine Snow Tag Q3_22_rating was removed from gene: ROBO1.
Tag Q3_22_MOI was removed from gene: ROBO1.
Tag Q3_22_NHS_review was removed from gene: ROBO1.
Pituitary hormone deficiency v2.106 TBC1D32 Catherine Snow Tag Q3_22_NHS_review was removed from gene: TBC1D32.
Pituitary hormone deficiency v2.106 TBC1D32 Catherine Snow Tag Q3_22_rating was removed from gene: TBC1D32.
Pituitary hormone deficiency v2.106 TCF7L1 Catherine Snow Tag Q3_22_rating was removed from gene: TCF7L1.
Tag Q3_22_NHS_review was removed from gene: TCF7L1.
Pituitary hormone deficiency v2.106 TGIF1 Catherine Snow Tag Q3_22_rating was removed from gene: TGIF1.
Tag Q3_22_NHS_review was removed from gene: TGIF1.
Pituitary hormone deficiency v2.106 TGIF1 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Insufficient evidence, sugget amber rating pending further evidence."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence, sugget amber rating pending further evidence."
Pituitary hormone deficiency v2.106 TCF7L1 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Insufficient evidence, sugget amber rating pending further evidence."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence, suggest amber rating pending further evidence."
Pituitary hormone deficiency v2.106 ROBO1 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Not associated with phenotye in OMIM. Phenotypic heterogeneity associated with this gene (HGMD). Liu & Chen 2020: Mother and son with PSIS, Brauner et al 2020 (PNID:33270637), also reported cases from Bashamboo et al 2017 (PMID:28402530): 4 cases (one case also had variants in NBAS and KIAA0556). Suggest amber rating pending further information."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Not associated with phenotye in OMIM. Phenotypic heterogeneity associated with this gene (HGMD). Liu & Chen 2020: Mother and son with PSIS, Brauner et al 2020 (PNID:33270637), also reported cases from Bashamboo et al 2017 (PMID:28402530): 4 cases (one case also had variants in NBAS and KIAA0556). Suggest amber rating pending further information."
Pituitary hormone deficiency v2.106 MAGEL2 Catherine Snow Tag Q3_22_rating was removed from gene: MAGEL2.
Tag Q3_22_MOI was removed from gene: MAGEL2.
Tag Q3_22_NHS_review was removed from gene: MAGEL2.
Pituitary hormone deficiency v2.106 PCSK1 Catherine Snow Tag Q3_22_rating was removed from gene: PCSK1.
Tag Q3_22_NHS_review was removed from gene: PCSK1.
Pituitary hormone deficiency v2.106 PCSK1 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Insufficient evidence to support inclusion in this panel. Patient's have early-onset obesity and gene is green on obesity panel."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Insufficient evidence to support inclusion in this panel. Patient's have early-onset obesity and gene is green on obesity panel."
Pituitary hormone deficiency v2.106 MAGEL2 Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Usually manifests at birth with muscular hypotonia in all patients and distal joint contractures in a majority of affected individuals, therefore likely that these patients will be tested using alternative panel(s). Further clinical input needed to determine if this panel would be used for these patients."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Usually manifests at birth with muscular hypotonia in all patients and distal joint contractures in a majority of affected individuals, therefore likely that these patients will be tested using alternative panel(s). Further clinical input needed to determine if this panel would be used for these patients."
Pituitary hormone deficiency v2.106 IGSF1 Catherine Snow Tag Q3_22_MOI was removed from gene: IGSF1.
Tag Q3_22_NHS_review was removed from gene: IGSF1.
Pituitary hormone deficiency v2.106 HID1 Catherine Snow Tag Q3_21_rating was removed from gene: HID1.
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 TGIF1 Catherine Snow commented on gene: TGIF1
Pituitary hormone deficiency v2.106 TCF7L1 Catherine Snow commented on gene: TCF7L1
Pituitary hormone deficiency v2.106 TBC1D32 Catherine Snow commented on gene: TBC1D32
Pituitary hormone deficiency v2.106 ROBO1 Catherine Snow commented on gene: ROBO1
Pituitary hormone deficiency v2.106 RNPC3 Catherine Snow commented on gene: RNPC3
Pituitary hormone deficiency v2.106 PCSK1 Catherine Snow commented on gene: PCSK1
Pituitary hormone deficiency v2.106 MAGEL2 Catherine Snow commented on gene: MAGEL2
Pituitary hormone deficiency v2.106 IGSF1 Catherine Snow commented on gene: IGSF1
Pituitary hormone deficiency v2.106 HID1 Catherine Snow reviewed gene: HID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pituitary hormone deficiency v2.106 GHR Catherine Snow commented on gene: GHR
Pituitary hormone deficiency v2.106 BRAF Catherine Snow reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pituitary hormone deficiency v2.105 TBC1D32 Catherine Snow Source Expert Review Green was added to TBC1D32.
Source NHS GMS was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pituitary hormone deficiency v2.105 ROBO1 Catherine Snow Source NHS GMS was added to ROBO1.
Pituitary hormone deficiency v2.105 RNPC3 Catherine Snow Source Expert Review Green was added to RNPC3.
Source NHS GMS was added to RNPC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pituitary hormone deficiency v2.105 PCSK1 Catherine Snow Source NHS GMS was added to PCSK1.
Pituitary hormone deficiency v2.105 MAGEL2 Catherine Snow Source NHS GMS was added to MAGEL2.
Pituitary hormone deficiency v2.105 IGSF1 Catherine Snow Source NHS GMS was added to IGSF1.
Mode of inheritance for gene IGSF1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v2.105 HID1 Catherine Snow Source Expert Review Green was added to HID1.
Source NHS GMS was added to HID1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Pituitary hormone deficiency v2.105 BRAF Catherine Snow Source Expert Review Green was added to BRAF.
Source NHS GMS was added to BRAF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 v2.103 HID1 Eleanor Williams commented on gene: HID1
Pituitary hormone deficiency v2.103 HID1 Eleanor Williams Phenotypes for gene: HID1 were changed from Syndromic infantile encephalopathy; Hypopituitarism to Syndromic infantile encephalopathy; Hypopituitarism; Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
Pituitary hormone deficiency v2.102 HID1 Eleanor Williams Tag gene-checked was removed from gene: HID1.
Pituitary hormone deficiency v2.102 ROBO1 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: ROBO1.
Tag Q3_22_NHS_review tag was added to gene: ROBO1.
Pituitary hormone deficiency v2.102 MAGEL2 Sarah Leigh Tag Q3_22_MOI tag was added to gene: MAGEL2.
Pituitary hormone deficiency v2.102 TBC1D32 Sarah Leigh Tag Q3_22_rating tag was added to gene: TBC1D32.
Tag Q3_22_NHS_review tag was added to gene: TBC1D32.
Pituitary hormone deficiency v2.102 TBC1D32 Sarah Leigh Classified gene: TBC1D32 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.102 TBC1D32 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Pituitary hormone deficiency v2.102 TBC1D32 Sarah Leigh Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.101 TBC1D32 Sarah Leigh reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v2.101 TBC1D32 Sarah Leigh Phenotypes for gene: TBC1D32 were changed from to Syndromic Hypopituitarism; orofaciodigital syndrome
Pituitary hormone deficiency v2.100 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to 32060556; 35875813
Pituitary hormone deficiency v2.99 TBC1D32 Sarah Leigh Mode of inheritance for gene: TBC1D32 was changed from to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.98 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to
Pituitary hormone deficiency v2.97 SOX2 Sarah Leigh Phenotypes for gene: SOX2 were changed from Microphthalmia, syndromic 3 (206900) to Microphthalmia, syndromic 3, OMIM:206900; anophthalmia/microphthalmia-esophageal atresia syndrome, MONDO:0008799
Pituitary hormone deficiency v2.96 SIX3 Sarah Leigh Classified gene: SIX3 as Red List (low evidence)
Pituitary hormone deficiency v2.96 SIX3 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review.
Pituitary hormone deficiency v2.96 SIX3 Sarah Leigh Gene: six3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v2.95 SIX3 Sarah Leigh reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v2.95 SIX3 Sarah Leigh Publications for gene: SIX3 were set to 35951005; 34974160; 32796691
Pituitary hormone deficiency v2.94 SIX3 Sarah Leigh Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2,OMIMM157170 to Holoprosencephaly 2, OMIM:157170; alobar holoprosencephaly, MONDO:0019757
Pituitary hormone deficiency v2.93 SIX3 Sarah Leigh Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170) to Holoprosencephaly 2,OMIMM157170
Pituitary hormone deficiency v2.92 SIX3 Sarah Leigh Publications for gene: SIX3 were set to 35951005
Pituitary hormone deficiency v2.91 SIX3 Sarah Leigh Publications for gene: SIX3 were set to
Pituitary hormone deficiency v2.90 RAX Sarah Leigh Tag watchlist tag was added to gene: RAX.
Pituitary hormone deficiency v2.90 RAX Sarah Leigh Classified gene: RAX as Amber List (moderate evidence)
Pituitary hormone deficiency v2.90 RAX Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN on this panel at the moment..
Pituitary hormone deficiency v2.90 RAX Sarah Leigh Gene: rax has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.89 RAX Sarah Leigh reviewed gene: RAX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v2.89 RAX Sarah Leigh Classified gene: RAX as Amber List (moderate evidence)
Pituitary hormone deficiency v2.89 RAX Sarah Leigh Gene: rax has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.88 RAX Sarah Leigh Publications for gene: RAX were set to 30811539
Pituitary hormone deficiency v2.87 RAX Sarah Leigh Phenotypes for gene: RAX were changed from to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604
Pituitary hormone deficiency v2.86 RAX Sarah Leigh Publications for gene: RAX were set to
Pituitary hormone deficiency v2.85 RAX Sarah Leigh Mode of inheritance for gene: RAX was changed from to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.84 PCSK1 Sarah Leigh Tag Q3_22_rating tag was added to gene: PCSK1.
Tag Q3_22_NHS_review tag was added to gene: PCSK1.
Pituitary hormone deficiency v2.84 PCSK1 Sarah Leigh Classified gene: PCSK1 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.84 PCSK1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Pituitary hormone deficiency v2.84 PCSK1 Sarah Leigh Gene: pcsk1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.83 PCSK1 Sarah Leigh reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v2.83 PCSK1 Sarah Leigh Phenotypes for gene: PCSK1 were changed from to Obesity with impaired prohormone processing, OMIM:600955; obesity due to prohormone convertase I deficiency, MONDO:0010961; {Obesity, susceptibility to, BMIQ12},OMIM:612362
Pituitary hormone deficiency v2.82 PCSK1 Sarah Leigh Publications for gene: PCSK1 were set to
Pituitary hormone deficiency v2.81 PCSK1 Sarah Leigh Mode of inheritance for gene: PCSK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.80 TCF7L1 Sarah Leigh Tag Q3_22_rating tag was added to gene: TCF7L1.
Tag Q3_22_NHS_review tag was added to gene: TCF7L1.
Pituitary hormone deficiency v2.80 TCF7L1 Sarah Leigh reviewed gene: TCF7L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v2.80 TGIF1 Sarah Leigh Tag Q3_22_rating tag was added to gene: TGIF1.
Tag Q3_22_NHS_review tag was added to gene: TGIF1.
Pituitary hormone deficiency v2.80 TGIF1 Sarah Leigh edited their review of gene: TGIF1: Changed rating: GREEN
Pituitary hormone deficiency v2.80 TGIF1 Sarah Leigh changed review comment from: Associated with Holoprosencephaly 4 (OMIM:142946) and as definitive Gen2Phen gene for Holoprosencephaly. An association between TGIF1 and pituitary hormone deficiency has only been made with three variants in three unrelated cases (PMIDs: 23476075;34440302).; to: Associated with Holoprosencephaly 4 (OMIM:142946) and as definitive Gen2Phen gene for Holoprosencephaly. An association between TGIF1 and pituitary hormone deficiency has only been made with three variants in three unrelated cases (PMIDs: 23476075;34440302).
Pituitary hormone deficiency v2.80 TGIF1 Sarah Leigh Classified gene: TGIF1 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.80 TGIF1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review as there are three variants in three unrelated cases with pituitary involvement.
Pituitary hormone deficiency v2.80 TGIF1 Sarah Leigh Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.79 TGIF1 Sarah Leigh Deleted their comment
Pituitary hormone deficiency v2.79 TGIF1 Sarah Leigh edited their review of gene: TGIF1: Added comment: Associated with Holoprosencephaly 4 (OMIM:142946) and as definitive Gen2Phen gene for Holoprosencephaly. An association between TGIF1 and pituitary hormone deficiency has only been made with three variants in three unrelated cases (PMIDs: 23476075;34440302).; Changed rating: AMBER
Pituitary hormone deficiency v2.79 TGIF1 Sarah Leigh Classified gene: TGIF1 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.79 TGIF1 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN on the Pituitary hormone deficiency at the next major review.
Pituitary hormone deficiency v2.79 TGIF1 Sarah Leigh Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.78 TGIF1 Sarah Leigh Publications for gene: TGIF1 were set to 23476075
Pituitary hormone deficiency v2.77 TGIF1 Sarah Leigh Phenotypes for gene: TGIF1 were changed from Holoprosencephaly 4 (142946) to Holoprosencephaly 4,OMIM:142946; holoprosencephaly 4, MONDO:0007734
Pituitary hormone deficiency v2.76 RNPC3 Sarah Leigh Classified gene: RNPC3 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.76 RNPC3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Pituitary hormone deficiency v2.76 RNPC3 Sarah Leigh Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.75 RNPC3 Sarah Leigh reviewed gene: RNPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v2.75 RNPC3 Sarah Leigh Phenotypes for gene: RNPC3 were changed from Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 to Pituitary hormone deficiency, combined or isolated 7, OMIM:618160; isolated growth hormone deficiency, type 5, MONDO:0032569
Pituitary hormone deficiency v2.74 RNPC3 Sarah Leigh Tag watchlist was removed from gene: RNPC3.
Tag Q3_22_rating tag was added to gene: RNPC3.
Tag Q3_22_NHS_review tag was added to gene: RNPC3.
Pituitary hormone deficiency v2.74 RNPC3 Sarah Leigh Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814; 33650182
Pituitary hormone deficiency v2.73 WDR11 Sarah Leigh Publications for gene: WDR11 were set to 28453858
Pituitary hormone deficiency v2.72 WDR11 Sarah Leigh reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: 20887964, 34413497, 28453858; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v2.72 WDR11 Sarah Leigh Publications for gene: WDR11 were set to
Pituitary hormone deficiency v2.71 WDR11 Sarah Leigh Phenotypes for gene: WDR11 were changed from Hypogonadotropic hypogonadism 14 with or without anosmia (614858) to Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM:614858; hypogonadotropic hypogonadism 14 with or without anosmia, MONDO:0013926
Pituitary hormone deficiency v2.70 ROBO1 Sarah Leigh Tag Q3_21_NHS_review tag was added to gene: ROBO1.
Tag Q3_22_rating tag was added to gene: ROBO1.
Tag Q3_22_MOI tag was added to gene: ROBO1.
Pituitary hormone deficiency v2.70 ROBO1 Sarah Leigh edited their review of gene: ROBO1: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 28402530 reports three ROBO1 variants in three unrelated cases with pituitary stalk interruption syndrome (MONDO:0019828, which is a non-gene specific phenotype). Segregation is reported for two of these variants: c.2928_2929delG, p.Ala977Glnfs*40 is found in affected dizygotic twins and c.719G>C, p.Cys240Ser is found an affected child and her affected paternal aunt.; Changed rating: GREEN
Pituitary hormone deficiency v2.70 ROBO1 Sarah Leigh Added comment: Comment on phenotypes: In the context of the Pituitary hormone deficiency panel, the Mondo term: pituitary stalk interruption syndrome (MONDO:0019828) could be applied, however, this Mondo term is a general description and is not specific to a conidition associated with ROBO1 variants.
Pituitary hormone deficiency v2.70 ROBO1 Sarah Leigh Phenotypes for gene: ROBO1 were changed from to pituitary stalk interruption syndrome, MONDO:0019828
Pituitary hormone deficiency v2.69 ROBO1 Sarah Leigh Publications for gene: ROBO1 were set to
Pituitary hormone deficiency v2.68 ROBO1 Sarah Leigh Mode of inheritance for gene: ROBO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.67 ROBO1 Sarah Leigh Classified gene: ROBO1 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.67 ROBO1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Pituitary hormone deficiency v2.67 ROBO1 Sarah Leigh Gene: robo1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.66 FAT2 Sarah Leigh Tag watchlist tag was added to gene: FAT2.
Pituitary hormone deficiency v2.66 FAT2 Sarah Leigh Classified gene: FAT2 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.66 FAT2 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the moment, however, if additional FAT2 variants are reported to be associated with pituitary stalk interruption syndrome, this rating may change.
Pituitary hormone deficiency v2.66 FAT2 Sarah Leigh Gene: fat2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.65 FAT2 Sarah Leigh edited their review of gene: FAT2: Added comment: Not associated with a pituitary phenotype in OMIM, Gen2Phen or MONDO. PMID: 33108146 reports four FAT2 variants in four unrelated cases with pituitary stalk interruption syndrome (MONDO:0019828, which is a non-gene specific phenotype). However, one of these variants (rs1024234841) is synonymous and in silico tools do not predict an effect on splicing and another variant (rs377026428) is digenic with a DCHS2 variant and so its contribution to disease causation is uncertain.; Changed rating: AMBER
Pituitary hormone deficiency v2.65 FAT2 Sarah Leigh Mode of inheritance for gene: FAT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.64 FAT2 Sarah Leigh Added comment: Comment on phenotypes: In the context of the Pituitary hormone deficiency panel, the Mondo term: pituitary stalk interruption syndrome (MONDO:0019828) could be applied, however, this Mondo term is a general description and is not specific to a conidition associated with FAT2 variants.
Pituitary hormone deficiency v2.64 FAT2 Sarah Leigh Phenotypes for gene: FAT2 were changed from pituitary stalk interruption syndrome, MONDO:0019828 to Spinocerebellar ataxia 45, OMIM:617769; spinocerebellar ataxia 45, MONDO:0033480
Pituitary hormone deficiency v2.63 FAT2 Sarah Leigh Publications for gene: FAT2 were set to 33108146
Pituitary hormone deficiency v2.62 PAX6 Eleanor Williams Classified gene: PAX6 as Red List (low evidence)
Pituitary hormone deficiency v2.62 PAX6 Eleanor Williams Added comment: Comment on list classification: Leaving rating as red, only 1 patient is reported with a variant in PAX and a pituitary hormone deficiency. Another patient is reported with deletion of the enhancer region of PAX6, but the PAX6 coding region was unaffected. Awaiting further cases before considering promoting to amber or green.
Pituitary hormone deficiency v2.62 PAX6 Eleanor Williams Gene: pax6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v2.61 PAX6 Eleanor Williams commented on gene: PAX6: PMID: 25342853 - Takagi et al 2015 - studied 88 (syndromic: 30; non-syndromic: 58) Japanese congenital hypopituitarism patients and performed aCGH on the syndromic patients, and analysed PAX6 in all 88 patients. They found 1 heterozygous 310-kb deletion of the PAX6 enhancer region, and 1 non-syndromic patient with a p.N116S variant. Both showed isolated GH deficiency.
Pituitary hormone deficiency v2.61 NKX2-1 Eleanor Williams Classified gene: NKX2-1 as Red List (low evidence)
Pituitary hormone deficiency v2.61 NKX2-1 Eleanor Williams Added comment: Comment on list classification: There is only 1 reported case to date of a patient with haploinsufficiency in NKX2-1 and pituitary hormone deficiency, so rating this gene as red for now.
Pituitary hormone deficiency v2.61 NKX2-1 Eleanor Williams Gene: nkx2-1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v2.60 NKX2-1 Eleanor Williams Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978; brain-lung-thyroid syndrome, MONDO:0012593
Pituitary hormone deficiency v2.59 NKX2-1 Eleanor Williams Publications for gene: NKX2-1 were set to
Pituitary hormone deficiency v2.58 NKX2-1 Eleanor Williams Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.57 NKX2-1 Eleanor Williams commented on gene: NKX2-1: Associated with Choreoathetosis, hypothyroidism, and neonatal respiratory distress #610978 (AD) in OMIM.

Heterozygous mutations or haploinsufficiency of NKX2-1 are associated with the brain-lung-thyroid syndrome, Prasad et al 2019 (PMID:31707387) report a case of a patient with profound hypopituitarism in the early neonatal period in addition to undetectable tissue on thyroid ultrasonography, who was subsequently diagnosed with brain-lung-thyroid syndrome. She was found by CGH microarray to have 2 de novo deletions, a 4.9-Mb deletion in 14q13.2-q21.1 and a 404-kb deletion in 3 p12.3-p13. The 14q deletion contains 21 genes including NKX2-1. The deletion of this gene was thought to explain the phenotype.
Pituitary hormone deficiency v2.57 MAGEL2 Eleanor Williams Classified gene: MAGEL2 as Red List (low evidence)
Pituitary hormone deficiency v2.57 MAGEL2 Eleanor Williams Added comment: Comment on list classification: Promoting to amber but with a recommendation for green rating following GMS review. More than 3 patients reported with plausible disease causing variants in MAGEL2 and a pituitary hormone deficiency
Pituitary hormone deficiency v2.57 MAGEL2 Eleanor Williams Gene: magel2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v2.56 MAGEL2 Eleanor Williams Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, OMIM:615547; Schaaf-Yang syndrome, MONDO:0014243
Pituitary hormone deficiency v2.55 MAGEL2 Eleanor Williams Publications for gene: MAGEL2 were set to
Pituitary hormone deficiency v2.54 MAGEL2 Eleanor Williams Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Pituitary hormone deficiency v2.53 MAGEL2 Eleanor Williams Tag Q3_21_NHS_review was removed from gene: MAGEL2.
Tag Q3_22_NHS_review tag was added to gene: MAGEL2.
Pituitary hormone deficiency v2.53 MAGEL2 Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: MAGEL2.
Tag Q3_22_rating tag was added to gene: MAGEL2.
Pituitary hormone deficiency v2.53 MAGEL2 Eleanor Williams changed review comment from: Associated with Schaaf-Yang syndrome #615547 (AD) in OMIM.

PMID: 31504653 - Gregory et al 2019 - report 4 patients from 3 unrelated families (2 White European, 1 White Chilean) with the same c.1996dup, p.Q666Pfs*47. variant in MAGEL2, who all presented with variable congenital hypopituitarism (CH) and arthrogryposis. In 2 cases it was found to be a de novo variant. In the other two it would found not to be maternally inherited but paternal DNA was not available.

PMID: 29359444 - Enya et al 2018 - report 3 patients from 2 Japanese families with Schaaf-Yang syndrome with arthrogryposis and endocrinological abnormalities. In both families variants in MAGEL2 were identified (c.1912C>T, p.Gln638*, inherited from the heterozygous father, and the de novo variant c.3131C>A, p.Ser1044*). The patient with the p.Ser1044* was was diagnosed with panhypopituitarism.

PMID: 30323850 - Hidalgo-Santos et al 2018 - report a patient with Schaaf-Yang syndrome and a de novo variant in MAGEL2 (c.3019 C > T, p.Gln1007*). The patient presented with distal contractures, hypotonia, autism spectrum disorder, digestive abnormalities, partial hypopituitarism with central hypothyroidism and growth hormone (GH) deficiency; to: Associated with Schaaf-Yang syndrome #615547 (AD) in OMIM.

PMID: 31504653 - Gregory et al 2019 - report 4 patients from 3 unrelated families (2 White European, 1 White Chilean) with the same c.1996dup, p.Q666Pfs*47. variant in MAGEL2, who all presented with variable congenital hypopituitarism (CH) and arthrogryposis. In 2 cases it was found to be a de novo variant. In the other two it would found not to be maternally inherited but paternal DNA was not available.

PMID: 29359444 - Enya et al 2018 - report 3 patients from 2 Japanese families with Schaaf-Yang syndrome with arthrogryposis and endocrinological abnormalities. In both families variants in MAGEL2 were identified (c.1912C>T, p.Gln638*, inherited from the heterozygous father, and the de novo variant c.3131C>A, p.Ser1044*). The patient with the p.Ser1044* was diagnosed with panhypopituitarism.

PMID: 30323850 - Hidalgo-Santos et al 2018 - report a patient with Schaaf-Yang syndrome and a de novo variant in MAGEL2 (c.3019 C > T, p.Gln1007*). The patient presented with distal contractures, hypotonia, autism spectrum disorder, digestive abnormalities, partial hypopituitarism with central hypothyroidism and growth hormone (GH) deficiency
Pituitary hormone deficiency v2.53 MAGEL2 Eleanor Williams edited their review of gene: MAGEL2: Added comment: Associated with Schaaf-Yang syndrome #615547 (AD) in OMIM.

PMID: 31504653 - Gregory et al 2019 - report 4 patients from 3 unrelated families (2 White European, 1 White Chilean) with the same c.1996dup, p.Q666Pfs*47. variant in MAGEL2, who all presented with variable congenital hypopituitarism (CH) and arthrogryposis. In 2 cases it was found to be a de novo variant. In the other two it would found not to be maternally inherited but paternal DNA was not available.

PMID: 29359444 - Enya et al 2018 - report 3 patients from 2 Japanese families with Schaaf-Yang syndrome with arthrogryposis and endocrinological abnormalities. In both families variants in MAGEL2 were identified (c.1912C>T, p.Gln638*, inherited from the heterozygous father, and the de novo variant c.3131C>A, p.Ser1044*). The patient with the p.Ser1044* was was diagnosed with panhypopituitarism.

PMID: 30323850 - Hidalgo-Santos et al 2018 - report a patient with Schaaf-Yang syndrome and a de novo variant in MAGEL2 (c.3019 C > T, p.Gln1007*). The patient presented with distal contractures, hypotonia, autism spectrum disorder, digestive abnormalities, partial hypopituitarism with central hypothyroidism and growth hormone (GH) deficiency; Changed publications to: 31504653, 29359444, 30323850; Changed phenotypes to: Schaaf-Yang syndrome, OMIM:615547
Pituitary hormone deficiency v2.53 L1CAM Eleanor Williams changed review comment from: Comment on mode of inheritance: Using the default X linked mode of inheritance as only 1 case reported to date in a male, whose mother was a heterozygous carrier. For L1 syndrome female carriers have been noted to show minor features, such as adducted thumbs or mild intellectual deficits.; to: Comment on mode of inheritance: Using the default X linked mode of inheritance as only 1 case reported to date in a male, whose mother was a heterozygous carrier and so there is insufficient evidence to say whether biallelic variants are required for a clinical phenotype in females. For L1 syndrome female carriers have been noted to show minor features, such as adducted thumbs or mild intellectual deficits.
Pituitary hormone deficiency v2.53 L1CAM Eleanor Williams Phenotypes for gene: L1CAM were changed from to CRASH syndrome, OMIM:303350; MASA syndrome, OMIM:303350
Pituitary hormone deficiency v2.52 L1CAM Eleanor Williams Publications for gene: L1CAM were set to
Pituitary hormone deficiency v2.51 L1CAM Eleanor Williams Added comment: Comment on mode of inheritance: Using the default X linked mode of inheritance as only 1 case reported to date in a male, whose mother was a heterozygous carrier. For L1 syndrome female carriers have been noted to show minor features, such as adducted thumbs or mild intellectual deficits.
Pituitary hormone deficiency v2.51 L1CAM Eleanor Williams Mode of inheritance for gene: L1CAM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v2.50 L1CAM Eleanor Williams commented on gene: L1CAM: PMID: 31504653 - Gregory et al 2019 - investigated 5 patients from 4 unrelated families who presented with variable congenital hypopituitarism (CH) and arthrogryposis. 1 Afro-Caribbean male patient was found by WES to have a hemizygous L1CAM c.1354G>A, p.G452R variant. This patient also had hydrocephalus and other features consistent with L1 syndrome.
Pituitary hormone deficiency v2.50 KCNQ1 Eleanor Williams commented on gene: KCNQ1: No new evidence reported since the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group at that point agreed that there is insufficient evidence to rate this gene as green. Therefore leaving this gene amber for now.
Pituitary hormone deficiency v2.50 IGSF1 Eleanor Williams Tag Q3_22_MOI tag was added to gene: IGSF1.
Tag Q3_22_NHS_review tag was added to gene: IGSF1.
Pituitary hormone deficiency v2.50 IGSF1 Eleanor Williams Added comment: Comment on mode of inheritance: Heterozygous female carriers may show a phenotype related to the pituitary gland. In PMID: 24108313 (Joustra et al 2013) they report 6 females were biochemically hypothyroid, and 2 were prolactin deficient. (hypothyroid is linked to decreased function of the pituitary gland and prolactin is produced in the pituitary gland). PMID: 30086211 (Roche et al 2018) also report a heterozygous female with central hypothyroidism.

Therefore it is proposed to change the mode of inheritance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease
Pituitary hormone deficiency v2.50 IGSF1 Eleanor Williams Mode of inheritance for gene: IGSF1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v2.49 IGSF1 Eleanor Williams edited their review of gene: IGSF1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v2.49 IGSF1 Eleanor Williams edited their review of gene: IGSF1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v2.49 IGSF1 Eleanor Williams Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement (300888) to Hypothyroidism, central, and testicular enlargement, OMIM:300888
Pituitary hormone deficiency v2.48 IFT172 Eleanor Williams Phenotypes for gene: IFT172 were changed from to retinopathy, metaphyseal dysplasia
Pituitary hormone deficiency v2.47 IFT172 Eleanor Williams Publications for gene: IFT172 were set to
Pituitary hormone deficiency v2.46 IFT172 Eleanor Williams Mode of inheritance for gene: IFT172 was changed from to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.45 IFT172 Eleanor Williams commented on gene: IFT172: PMID: 25664603 - Lucas-Herald et al 2015 - first reported case of a child with a mutation in IFT172 who presented with growth retardation in early childhood. He responded well to recombinant human growth hormone. He was found by WES to have compound heterozygous variants; a missense mutation, c.5179T>C (p.Cys1727Arg), and a novel splice site mutation in intron 4, c.337–2A>C. The parents were heterozygotes.

A PubMed search did not find any other cases were growth hormone deficiency is reported along with IFT172 variants.
Pituitary hormone deficiency v2.45 GPR161 Eleanor Williams Phenotypes for gene: GPR161 were changed from No OMIM number; pituitary stalk interruption syndrome to pituitary stalk interruption syndrome, MONDO:0019828
Pituitary hormone deficiency v2.44 GPR161 Eleanor Williams Mode of inheritance for gene: GPR161 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.43 GPR161 Eleanor Williams commented on gene: GPR161: No phenotype association in OMIM.
As stated previously Karaca et al. (2015) (PMID:25322266) report that a homozygous missense variant IN GPR161 was found in 2 members of a family by WES. Both affected individuals had a clinical diagnosis of Pituitary stalk interruption syndrome (PSIS).
A search of PubMed did not find any further reported cases therefore this gene should remain red at this time.
Pituitary hormone deficiency v2.43 FGFR1 Eleanor Williams changed review comment from: Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S,Dattani MT, Pitteloud N.J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9. doi: 10.1210/jc.2011-2938. Epub 2012 Feb 8.; to: Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S,Dattani MT, Pitteloud N.J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9. doi: 10.1210/jc.2011-2938. Epub 2012 Feb 8.PMID: 22319038
Pituitary hormone deficiency v2.43 FGFR1 Eleanor Williams commented on gene: FGFR1: Review from Professor Dattani confirms that this gene should be green.
Pituitary hormone deficiency v2.43 FGFR1 Eleanor Williams Phenotypes for gene: FGFR1 were changed from Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465); Pfeiffer syndrome (101600); Jackson-Weiss syndrome (123150) to Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950; Hartsfield syndrome, OMIM:615465; Pfeiffer syndrome, OMIM:101600; Jackson-Weiss syndrome, OMIM:123150
Pituitary hormone deficiency v2.42 EIF2S3 Eleanor Williams Phenotypes for gene: EIF2S3 were changed from hypopituitarism; glucose intolerance; MEHMO syndrome, OMIM:300148 to hypopituitarism, MONDO:0005152; glucose intolerance, MONDO:0001076; MEHMO syndrome, OMIM:300148; MEHMO syndrome, MONDO:0010258
Pituitary hormone deficiency v2.41 EIF2S3 Eleanor Williams Tag watchlist tag was added to gene: EIF2S3.
Pituitary hormone deficiency v2.41 EIF2S3 Eleanor Williams Classified gene: EIF2S3 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.41 EIF2S3 Eleanor Williams Added comment: Comment on list classification: Promoting to Amber. 2 cases reported with hypopituitarism. In another case growth hormone deficiency is noted so adding the watchlist tag.
Pituitary hormone deficiency v2.41 EIF2S3 Eleanor Williams Gene: eif2s3 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.40 EIF2S3 Eleanor Williams Phenotypes for gene: EIF2S3 were changed from to hypopituitarism; glucose intolerance; MEHMO syndrome, OMIM:300148
Pituitary hormone deficiency v2.39 EIF2S3 Eleanor Williams Publications for gene: EIF2S3 were set to 30878599; 23063529; 27333055,; 28055140
Pituitary hormone deficiency v2.38 EIF2S3 Eleanor Williams Publications for gene: EIF2S3 were set to
Pituitary hormone deficiency v2.37 EIF2S3 Eleanor Williams Added comment: Comment on mode of inheritance: No female cases reported to date.
Pituitary hormone deficiency v2.37 EIF2S3 Eleanor Williams Mode of inheritance for gene: EIF2S3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v2.36 EIF2S3 Eleanor Williams Mode of inheritance for gene: EIF2S3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v2.35 EIF2S3 Eleanor Williams edited their review of gene: EIF2S3: Added comment: Associated with MEHMO syndrome in OMIM #300148 (XLR)

PMID: 30878599 - Gregory et al 2019 - X-chromosome exome sequencing identified a missense variant in EIF2S3 (p.Pro432Ser) in 3 related males with normal head circumferences and mild learning difficulties, hypopituitarism (GH and TSH deficiencies), and an unusual form of glucose dysregulation. The authors state this is the first time this combination of phenotypes has been reported in the literature.

Several other studies (PMID: 23063529,PMID: 27333055, PMID: 28055140) report the more severe MEHMO syndrome phenotype with severe learning difficulties, all in males. Heterozygous females are unaffected.
In PMID: 27333055 (Moortgat et al 2016) the growth hormone deficiency is noted in 2 related males, but for 1 it is reported that the pituitary gland and stalk were normal (not mentioned for the other). In PMID: 28055140 (Skopkova et al 2017) panhypopituitarism and partial hypopituitarism are noted as a clinical feature in two unrelated Slovakian patients (both with the same p.Ile465Serfs*4 variant).; Changed phenotypes to: HYPOPITUITARISM, GLUCOSE INTOLERANCE, FEATURES OF MEHMO SYNDROME, MEHMO syndrome, OMIM:300148; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v2.35 BMP4 Eleanor Williams Classified gene: BMP4 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.35 BMP4 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. 3 cases reported, but in one another gene was also deleted, and in the other only 3 genes were sequenced.
Pituitary hormone deficiency v2.35 BMP4 Eleanor Williams Gene: bmp4 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.34 BMP4 Eleanor Williams Phenotypes for gene: BMP4 were changed from Microphthalmia, syndromic 6 (607932) to Microphthalmia, syndromic 6, OMIM:607932
Pituitary hormone deficiency v2.33 BMP4 Eleanor Williams Publications for gene: BMP4 were set to 24289245
Pituitary hormone deficiency v2.32 BMP4 Eleanor Williams commented on gene: BMP4: PMID: 31120642 - Rodríguez-Contreras et al 2019 - report a 6 yo patient with combined pituitary hormone deficiency (CPHD ) who was found to have a de novo pathogenic loss-of-function variant (NM_001202.5:c.794G > A, p.(Trp265*)) in BMP4 following NGS using a custom 310 gene panel. His clinical phenotype included macrocephaly, myopia/astigmatism, mild psychomotor retardation, anterior pituitary hypoplasia and ectopic posterior pituitary, clinically diagnosed with growth hormone deficiency, and central hypothyroidism.

PMID: 24289245 - Breitfeld et al 2014 - sequenced BMP2, 4 and 7 in 19 subjects with combined pituitary hormone deficiency (CPHD). 1 proband was found to have a p.Arg300Pro variant in BMP4 that is predicted to have functional consequences.

PMID: 18252212 - Bakrania et al 2008 - screened 215 individuals with ocular malformation defects for variants in BMP4 and gene deletions by MLPA. They report 1 case with pituitary abormalities along with bilateral anophthalmia, microcephaly, sensorineural deafness, cryptorchidism, partial callosal agenesis, cerebellar abnormalities, and developmental delay . The proband had a deletion of del(14)(q22.2q23.1) which encompasses BMP4 and OTX2. Using in situ hybridization in human embryos, they showed expression of BMP4 in optic vesicle, developing retina and lens, pituitary region, and digits.

Also:
PMID: 35633847 - Calcaterra et al 2022 - report a child with a novel variant p.Glu93* in exon 3 of BMP4. She was found to have an ectopic posterior pituitary but normal hormonal assessment, associated to craniocervical junction dysmorphism and limb anomaly.
Pituitary hormone deficiency v2.32 BRAF Eleanor Williams Classified gene: BRAF as Amber List (moderate evidence)
Pituitary hormone deficiency v2.32 BRAF Eleanor Williams Gene: braf has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.31 BRAF Eleanor Williams Tag Q3_21_NHS_review was removed from gene: BRAF.
Tag Q3_22_NHS_review tag was added to gene: BRAF.
Pituitary hormone deficiency v2.31 BRAF Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: BRAF.
Tag Q3_22_rating tag was added to gene: BRAF.
Pituitary hormone deficiency v2.31 BRAF Eleanor Williams Classified gene: BRAF as Red List (low evidence)
Pituitary hormone deficiency v2.31 BRAF Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber, but with a green recommendation following GMS review. 5 cases reported with functional data implicating pituitary hormone deficiencies.
Pituitary hormone deficiency v2.31 BRAF Eleanor Williams Gene: braf has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v2.30 BRAF Eleanor Williams Phenotypes for gene: BRAF were changed from to Cardiofaciocutaneous syndrome, OMIM:115150; cardiofaciocutaneous syndrome, MONDO:0015280
Pituitary hormone deficiency v2.29 BRAF Eleanor Williams Publications for gene: BRAF were set to
Pituitary hormone deficiency v2.28 BRAF Eleanor Williams Added comment: Comment on mode of pathogenicity: All missense, activating variants
Pituitary hormone deficiency v2.28 BRAF Eleanor Williams Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Pituitary hormone deficiency v2.27 BRAF Eleanor Williams Mode of inheritance for gene: BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.26 BRAF Eleanor Williams edited their review of gene: BRAF: Added comment: PMID: 33795686 - Gualtieri et al 2021 - report 5 unrelated patients with 4 different missense variants in BRAF. WES did not find any other likely causative variants. They all had Cardio-Facio-Cutaneous (CFC) syndrome and were identified to have features of Septo-Optic Dysplasia (SOD). Functional studies using HEK293T cells showed that the BRAF genetic variants are pathogenic and result in activation of the ERK/MAPK pathway. Mice expressing one of the variants found BRAF p.Q257R showed abnormalities in terminal differentiation of hormone-producing cells.; Changed publications to: 33795686; Changed phenotypes to: Cardiofaciocutaneous syndrome, OMIM:115150, cardiofaciocutaneous syndrome, MONDO:0015280
Pituitary hormone deficiency v2.26 ARNT2 Eleanor Williams Classified gene: ARNT2 as Red List (low evidence)
Pituitary hormone deficiency v2.26 ARNT2 Eleanor Williams Added comment: Comment on list classification: Leaving the rating as Red. Still only 1 family with variants in this gene and pituitary hormone deficiency reported.
Pituitary hormone deficiency v2.26 ARNT2 Eleanor Williams Gene: arnt2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v2.25 ARNT2 Eleanor Williams Phenotypes for gene: ARNT2 were changed from ?Webb-Dattani syndrome (615926) to ?Webb-Dattani syndrome, OMIM:615926
Pituitary hormone deficiency v2.24 ARNT2 Eleanor Williams commented on gene: ARNT2: Provisionally associated with Webb-Dattani syndrome in OMIM (#615926, AR)

As reviewers note PMID: 24022475 - Webb et al 2013 reports a novel homozygous frameshift variant in ARNT2 in a consanguineous family with six affected children. Phenotypic features include microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract.

A search of PubMed did not find any other reported cases.
Pituitary hormone deficiency v2.24 DCHS2 Sarah Leigh Tag watchlist tag was added to gene: DCHS2.
Pituitary hormone deficiency v2.24 DCHS2 Sarah Leigh Classified gene: DCHS2 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.24 DCHS2 Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review. However, this may change if further DCHS2 variants are found in cases of pituitary stalk interruption syndrome.
Pituitary hormone deficiency v2.24 DCHS2 Sarah Leigh Gene: dchs2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.23 DCHS2 Sarah Leigh edited their review of gene: DCHS2: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 33108146 reports three DCHS2 variants in three unrelated cases with pituitary stalk interruption syndrome (MONDO:0019828, which is a non-gene specific phenotype). However, one of these variants is digenic with a FAT2 variant and so its contribution to disease causation is uncertain. A Dchs2–/– mouse model has been examined and has defects in hypothalamic-pituitary development, but the phenotype is not consistent with the human condition.; Changed rating: AMBER
Pituitary hormone deficiency v2.23 DCHS2 Sarah Leigh Classified gene: DCHS2 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.23 DCHS2 Sarah Leigh Gene: dchs2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.22 DCHS2 Sarah Leigh Mode of inheritance for gene: DCHS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.21 FAT2 Sarah Leigh Phenotypes for gene: FAT2 were changed from to pituitary stalk interruption syndrome, MONDO:0019828
Pituitary hormone deficiency v2.20 FAT2 Sarah Leigh Publications for gene: FAT2 were set to
Pituitary hormone deficiency v2.19 DCHS2 Sarah Leigh Publications for gene: DCHS2 were set to 29165578; 33108146
Pituitary hormone deficiency v2.18 DCHS2 Sarah Leigh Added comment: Comment on phenotypes: This Mondo term is a general description and not specific to a conidition associated with DCHS2 variants.
Pituitary hormone deficiency v2.18 DCHS2 Sarah Leigh Phenotypes for gene: DCHS2 were changed from pituitary stalk interruption syndrome, MONDO:0019828 to pituitary stalk interruption syndrome, MONDO:0019828
Pituitary hormone deficiency v2.17 DCHS2 Sarah Leigh Phenotypes for gene: DCHS2 were changed from to pituitary stalk interruption syndrome, MONDO:0019828
Pituitary hormone deficiency v2.16 DCHS2 Sarah Leigh Publications for gene: DCHS2 were set to
Pituitary hormone deficiency v2.15 DCHS2 Eleanor Williams reviewed gene: DCHS2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: PSIS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 ROBO1 Eleanor Williams reviewed gene: ROBO1: Rating: ; Mode of pathogenicity: ; Publications: 28402530; Phenotypes: PSIS, VARIABLE EYE ABNORMALITIES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 WDR11 Eleanor Williams reviewed gene: WDR11: Rating: ; Mode of pathogenicity: ; Publications: 28453858; Phenotypes: PITUITARY STALK INTERRUPTION SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 TGIF1 Eleanor Williams reviewed gene: TGIF1: Rating: ; Mode of pathogenicity: ; Publications: 34440302; Phenotypes: HYPOPITUITARISM, HOLOPROSENCEPHALY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 TCF7L1 Eleanor Williams reviewed gene: TCF7L1: Rating: ; Mode of pathogenicity: ; Publications: 26764381; Phenotypes: SEPTO-OPTIC DYSPLASIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 TBC1D32 Eleanor Williams reviewed gene: TBC1D32: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPOPITUITARISM, OROFACIODIGITAL SYNDROME FEATURES, POLYDACTYLY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.15 SOX2 Eleanor Williams reviewed gene: SOX2: Rating: ; Mode of pathogenicity: ; Publications: 16932809; Phenotypes: SEVERE EYE DEFECTS, DIPLEGIA, HYPOGONADOTROPHIC HYPOGONADISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 SIX3 Eleanor Williams reviewed gene: SIX3: Rating: ; Mode of pathogenicity: ; Publications: 35951005; Phenotypes: HYPOPITUITARISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 RNPC3 Eleanor Williams reviewed gene: RNPC3: Rating: ; Mode of pathogenicity: ; Publications: 34906446; Phenotypes: GHT, TSH AND PROLACTIN DEFICIENCY, PRIMARY OVARIAN FAILURE, NEUROPATHY, INTELLECTUAL DISABILITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.15 RAX Eleanor Williams reviewed gene: RAX: Rating: ; Mode of pathogenicity: ; Publications: 30811539; Phenotypes: ANOPHTHALMIA, CLAEFT PALATE, DIABETES INSIPIDUS, HYPOPITUITARISM; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.15 PCSK1 Eleanor Williams reviewed gene: PCSK1: Rating: ; Mode of pathogenicity: ; Publications: 30383237; Phenotypes: CONGENITAL DIARRHOEA, HYPOPITUITARISM, OBESITY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.15 PAX6 Eleanor Williams reviewed gene: PAX6: Rating: ; Mode of pathogenicity: ; Publications: 25342853; Phenotypes: EYE ABNORMALITIES, GH DEFICIENCY; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 NKX2-1 Eleanor Williams reviewed gene: NKX2-1: Rating: ; Mode of pathogenicity: ; Publications: 31707387; Phenotypes: BRAIN-THYROID-LUNG SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 MAGEL2 Eleanor Williams reviewed gene: MAGEL2: Rating: ; Mode of pathogenicity: ; Publications: 31504653; Phenotypes: SCHAAF-YANG SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Pituitary hormone deficiency v2.15 L1CAM Eleanor Williams reviewed gene: L1CAM: Rating: ; Mode of pathogenicity: ; Publications: 31504653; Phenotypes: HYDROCEPHALUS, ARTHROGRYPOSIS; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v2.15 KCNQ1 Eleanor Williams reviewed gene: KCNQ1: Rating: ; Mode of pathogenicity: ; Publications: 29097701; Phenotypes: Maternally inherited gingival fibromatosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 IGSF1 Eleanor Williams reviewed gene: IGSF1: Rating: ; Mode of pathogenicity: ; Publications: 23143598; Phenotypes: MACRO-ORCHIDISM, TSH, GH AND PROLACTIN DEFICIENCIES,; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v2.15 IFT172 Eleanor Williams reviewed gene: IFT172: Rating: ; Mode of pathogenicity: ; Publications: 25664603; Phenotypes: RETINOPATHY, METAPHYSEAL DYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.15 GPR161 Eleanor Williams reviewed gene: GPR161: Rating: ; Mode of pathogenicity: ; Publications: 25322266; Phenotypes: PITUITARY STALK INTERRUPTION SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.15 FGFR1 Eleanor Williams reviewed gene: FGFR1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: CLEFT LIP/PALATE, OPTIC NERVE HYPOPLASIA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 FAT2 Eleanor Williams reviewed gene: FAT2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: PITUITARY STALK INTERRUPTION SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 EIF2S3 Eleanor Williams reviewed gene: EIF2S3: Rating: ; Mode of pathogenicity: ; Publications: 30878599; Phenotypes: HYPOPITUITARISM, GLUCOSE INTOLERANCE, FEATURES OF MEHMO SYNDROME; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v2.15 BMP4 Eleanor Williams reviewed gene: BMP4: Rating: ; Mode of pathogenicity: ; Publications: 31120642; Phenotypes: LEARNING DIFFICULTIES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 BRAF Eleanor Williams reviewed gene: BRAF: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME + HYPOPITUITARISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v2.15 ARNT2 Eleanor Williams reviewed gene: ARNT2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPOPITUITARISM, LEARNING DIFFICULTIES, MICROCEPHALY, DIABETES INSIPIDUS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v2.14 DCHS2 Eleanor Williams gene: DCHS2 was added
gene: DCHS2 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: DCHS2 was set to
Pituitary hormone deficiency v2.14 ROBO1 Eleanor Williams gene: ROBO1 was added
gene: ROBO1 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: ROBO1 was set to
Pituitary hormone deficiency v2.14 TBC1D32 Eleanor Williams gene: TBC1D32 was added
gene: TBC1D32 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: TBC1D32 was set to
Pituitary hormone deficiency v2.14 RAX Eleanor Williams gene: RAX was added
gene: RAX was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: RAX was set to
Pituitary hormone deficiency v2.14 PCSK1 Eleanor Williams gene: PCSK1 was added
gene: PCSK1 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: PCSK1 was set to
Pituitary hormone deficiency v2.14 NKX2-1 Eleanor Williams gene: NKX2-1 was added
gene: NKX2-1 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: NKX2-1 was set to
Pituitary hormone deficiency v2.14 MAGEL2 Eleanor Williams gene: MAGEL2 was added
gene: MAGEL2 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: MAGEL2 was set to
Pituitary hormone deficiency v2.14 L1CAM Eleanor Williams gene: L1CAM was added
gene: L1CAM was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: L1CAM was set to
Pituitary hormone deficiency v2.14 IFT172 Eleanor Williams gene: IFT172 was added
gene: IFT172 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: IFT172 was set to
Pituitary hormone deficiency v2.14 FAT2 Eleanor Williams gene: FAT2 was added
gene: FAT2 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: FAT2 was set to
Pituitary hormone deficiency v2.14 EIF2S3 Eleanor Williams gene: EIF2S3 was added
gene: EIF2S3 was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: EIF2S3 was set to
Pituitary hormone deficiency v2.14 BRAF Eleanor Williams gene: BRAF was added
gene: BRAF was added to Pituitary hormone deficiency. Sources: Expert review
Mode of inheritance for gene: BRAF was set to
Pituitary hormone deficiency v2.13 HID1 Arina Puzriakova Tag gene-checked tag was added to gene: HID1.
Pituitary hormone deficiency v2.13 FOXA2 Arina Puzriakova Tag gene-checked tag was added to gene: FOXA2.
Pituitary hormone deficiency v2.13 HESX1 Arina Puzriakova Phenotypes for gene: HESX1 were changed from Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230) to Growth hormone deficiency with pituitary anomalies, OMIM:182230; Pituitary hormone deficiency, combined, 5, OMIM:182230; Septooptic dysplasia, OMIM:182230
Pituitary hormone deficiency v2.12 POU1F1 Arina Puzriakova Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, combined, 1 (613038) to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
Pituitary hormone deficiency v2.11 PSTPIP1 Arina Puzriakova Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416); Holoprosencephaly to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Pituitary hormone deficiency v2.10 RNPC3 Ivone Leong Classified gene: RNPC3 as Amber List (moderate evidence)
Pituitary hormone deficiency v2.10 RNPC3 Ivone Leong Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v2.9 RNPC3 Ivone Leong Tag watchlist tag was added to gene: RNPC3.
Pituitary hormone deficiency v2.9 RNPC3 Ivone Leong edited their review of gene: RNPC3: Added comment: PMID:33650182 a third case reported with growth failure, second case with ID and growth failure. In this case the patient has GH and PRL deficiencies, as well as undetectably low IGF1 levels. This is the second case where there are >2 pituitary hormone deficiency. Thefore this gene should be promoted from Red to Amber.; Changed rating: AMBER; Changed publications to: 33650182
Pituitary hormone deficiency v2.9 RNPC3 Ivone Leong Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160
Pituitary hormone deficiency v2.8 RNPC3 Ivone Leong Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814
Pituitary hormone deficiency v2.7 HID1 Arina Puzriakova Entity copied from Intellectual disability v3.1274
Pituitary hormone deficiency v2.7 HID1 Arina Puzriakova gene: HID1 was added
gene: HID1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Literature
Q3_21_rating tags were added to gene: HID1.
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism
Pituitary hormone deficiency v2.6 SOX3 Arina Puzriakova Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123) to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
Pituitary hormone deficiency v2.5 RNPC3 Ivone Leong gene: RNPC3 was added
gene: RNPC3 was added to Pituitary hormone deficiency. Sources: Literature,Expert Review
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814
Phenotypes for gene: RNPC3 were set to isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160
Review for gene: RNPC3 was set to RED
Added comment: This gene is an Amber gene on the Growth failure in early childhood panel (v1.16). The following reviews are present for this gene on that panel:

"Comment on list classification: Based on the available evidence and expert review, this gene has been promoted from Red to Amber. This gene is associated with a relevant phenotype on OMIM. The family described in PMIDs 24480542 and 29866761 are the same. The 3 sisters in this family had GH deficiency only. PMID: 32462814 had GH deficiency and almost undetectable levels of prolactin as well.
Ivone Leong (Genomics England Curator), 15 Oct 2020

Two families reported. PMID 29866761: isolated growth deficiency and pituitary hypoplasia. PMID 32462814: growth hormone deficiency, central congenital hypothyroidism, congenital cataract, developmental delay/intellectual deficiency and delayed puberty. Full spectrum of phenotype unclear at present.
Zornitza Stark (Australian Genomics), 5 Oct 2020"

As the second case has low levels of prolactin and GH, this gene was added to this panel as a Red gene.
Sources: Literature, Expert Review
Pituitary hormone deficiency v2.4 OTX2 Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v2.3 Catherine Snow Panel version has been signed off
Pituitary hormone deficiency v2.0 Ivone Leong promoted panel to version 2.0
Pituitary hormone deficiency v1.2 Ivone Leong List of related panels changed from to R159
Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Pituitary hormone deficiency v1.0 Ivone Leong promoted panel to version 1.0
Pituitary hormone deficiency v0.71 TBX19 Ivone Leong commented on gene: TBX19: 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 SOX3 Ivone Leong commented on gene: SOX3: 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 SOX2 Ivone Leong commented on gene: SOX2: 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 PROKR2 Ivone Leong commented on gene: PROKR2: 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 PNPLA6 Ivone Leong commented on gene: PNPLA6: 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 PITX2 Ivone Leong commented on gene: PITX2: 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 OTX2 Ivone Leong commented on gene: OTX2: 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 IGSF1 Ivone Leong commented on gene: IGSF1: 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 GNRHR Ivone Leong commented on gene: GNRHR: 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 GLI3 Ivone Leong commented on gene: GLI3: 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 GLI2 Ivone Leong commented on gene: GLI2: 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 GHSR Ivone Leong commented on gene: GHSR: 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 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 v0.71 GH1 Ivone Leong commented on gene: GH1: 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 FOXA2 Ivone Leong commented on gene: FOXA2: 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 FGFR1 Ivone Leong commented on gene: FGFR1: 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 FGF8 Ivone Leong commented on gene: FGF8: 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 CHD7 Ivone Leong commented on gene: CHD7: 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 BTK Ivone Leong commented on gene: BTK: 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 PROP1 Ivone Leong commented on gene: PROP1: 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 POU1F1 Ivone Leong commented on gene: POU1F1: 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 LHX4 Ivone Leong commented on gene: LHX4: 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 LHX3 Ivone Leong commented on gene: LHX3: 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 HESX1 Ivone Leong commented on gene: HESX1: 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 LHX4 Ivone Leong Deleted their comment
Pituitary hormone deficiency v0.71 LHX3 Ivone Leong Deleted their comment
Pituitary hormone deficiency v0.71 HESX1 Ivone Leong Deleted their comment
Pituitary hormone deficiency v0.71 LHX4 Ivone Leong commented on gene: LHX4: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 LHX3 Ivone Leong commented on gene: LHX3: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 HESX1 Ivone Leong commented on gene: HESX1: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Pituitary hormone deficiency v0.71 KCNQ1 Ivone Leong Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.71 KCNQ1 Ivone Leong Added comment: Comment on list classification: Comment on list classification: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So demoted from green to amber.
Pituitary hormone deficiency v0.71 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.70 RBM28 Ivone Leong Phenotypes for gene: RBM28 were changed from ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079) to ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079); ANE syndrome
Pituitary hormone deficiency v0.69 RBM28 Ivone Leong Publications for gene: RBM28 were set to
Pituitary hormone deficiency v0.68 RBM28 Martina Owens reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: None; Publications: PMID:20231366; Phenotypes: ANE syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.68 KCNQ1 Ivone Leong Classified gene: KCNQ1 as Green List (high evidence)
Pituitary hormone deficiency v0.68 KCNQ1 Ivone Leong Added comment: Comment on list classification: Promoted from green to amber as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust).
Pituitary hormone deficiency v0.68 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.67 KCNQ1 Martina Owens reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29097701; Phenotypes: ; Mode of inheritance:
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 BMP4 Ivone Leong Marked gene: BMP4 as ready
Pituitary hormone deficiency v0.65 BMP4 Ivone Leong Gene: bmp4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.65 ARNT2 Ivone Leong Marked gene: ARNT2 as ready
Pituitary hormone deficiency v0.65 ARNT2 Ivone Leong Gene: arnt2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.65 SHH Ivone Leong Tag watchlist tag was added to gene: SHH.
Pituitary hormone deficiency v0.65 CDON Ivone Leong Tag watchlist tag was added to gene: CDON.
Pituitary hormone deficiency v0.65 TCF7L1 Ivone Leong Marked gene: TCF7L1 as ready
Pituitary hormone deficiency v0.65 TCF7L1 Ivone Leong Gene: tcf7l1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 SHH Ivone Leong Marked gene: SHH as ready
Pituitary hormone deficiency v0.65 SHH Ivone Leong Gene: shh has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 KCNQ1 Ivone Leong Marked gene: KCNQ1 as ready
Pituitary hormone deficiency v0.65 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 CDON Ivone Leong Marked gene: CDON as ready
Pituitary hormone deficiency v0.65 CDON Ivone Leong Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.65 SOX3 Ivone Leong Marked gene: SOX3 as ready
Pituitary hormone deficiency v0.65 SOX3 Ivone Leong Gene: sox3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 SOX2 Ivone Leong Marked gene: SOX2 as ready
Pituitary hormone deficiency v0.65 SOX2 Ivone Leong Gene: sox2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 PROKR2 Ivone Leong Marked gene: PROKR2 as ready
Pituitary hormone deficiency v0.65 PROKR2 Ivone Leong Gene: prokr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 PNPLA6 Ivone Leong Marked gene: PNPLA6 as ready
Pituitary hormone deficiency v0.65 PNPLA6 Ivone Leong Gene: pnpla6 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 OTX2 Ivone Leong Marked gene: OTX2 as ready
Pituitary hormone deficiency v0.65 OTX2 Ivone Leong Gene: otx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 IGSF1 Ivone Leong Marked gene: IGSF1 as ready
Pituitary hormone deficiency v0.65 IGSF1 Ivone Leong Gene: igsf1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GNRHR Ivone Leong Marked gene: GNRHR as ready
Pituitary hormone deficiency v0.65 GNRHR Ivone Leong Gene: gnrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GLI3 Ivone Leong Marked gene: GLI3 as ready
Pituitary hormone deficiency v0.65 GLI3 Ivone Leong Gene: gli3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GLI2 Ivone Leong Marked gene: GLI2 as ready
Pituitary hormone deficiency v0.65 GLI2 Ivone Leong Gene: gli2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 GHSR Ivone Leong Marked gene: GHSR as ready
Pituitary hormone deficiency v0.65 GHSR Ivone Leong Gene: ghsr 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 v0.65 GH1 Ivone Leong Marked gene: GH1 as ready
Pituitary hormone deficiency v0.65 GH1 Ivone Leong Gene: gh1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 FOXA2 Ivone Leong Marked gene: FOXA2 as ready
Pituitary hormone deficiency v0.65 FOXA2 Ivone Leong Gene: foxa2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 FGFR1 Ivone Leong Marked gene: FGFR1 as ready
Pituitary hormone deficiency v0.65 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 FGF8 Ivone Leong Marked gene: FGF8 as ready
Pituitary hormone deficiency v0.65 FGF8 Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 CHD7 Ivone Leong Marked gene: CHD7 as ready
Pituitary hormone deficiency v0.65 CHD7 Ivone Leong Gene: chd7 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 BTK Ivone Leong Marked gene: BTK as ready
Pituitary hormone deficiency v0.65 BTK Ivone Leong Gene: btk has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 PROP1 Ivone Leong Marked gene: PROP1 as ready
Pituitary hormone deficiency v0.65 PROP1 Ivone Leong Gene: prop1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 POU1F1 Ivone Leong Marked gene: POU1F1 as ready
Pituitary hormone deficiency v0.65 POU1F1 Ivone Leong Gene: pou1f1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 LHX4 Ivone Leong Marked gene: LHX4 as ready
Pituitary hormone deficiency v0.65 LHX4 Ivone Leong Gene: lhx4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 LHX3 Ivone Leong Marked gene: LHX3 as ready
Pituitary hormone deficiency v0.65 LHX3 Ivone Leong Gene: lhx3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 HESX1 Ivone Leong Marked gene: HESX1 as ready
Pituitary hormone deficiency v0.65 HESX1 Ivone Leong Gene: hesx1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 TBX19 Ivone Leong Marked gene: TBX19 as ready
Pituitary hormone deficiency v0.65 TBX19 Ivone Leong Gene: tbx19 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.65 TBX19 Ivone Leong Publications for gene: TBX19 were set to
Pituitary hormone deficiency v0.64 TBX19 Ivone Leong Classified gene: TBX19 as Green List (high evidence)
Pituitary hormone deficiency v0.64 TBX19 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. TBX19 is confirmed to be associated with Adrenocorticotropic hormone deficiency in OMIM but not in Gene2Phenotype. It is also a green gene in the Congenital adrenal hypoplasia (Version 1.7) panel. There are >3 unrelated cases of patients with variants in TBX19 in OMIM.
Pituitary hormone deficiency v0.64 TBX19 Ivone Leong Gene: tbx19 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.63 PITX2 Ivone Leong Marked gene: PITX2 as ready
Pituitary hormone deficiency v0.63 PITX2 Ivone Leong Gene: pitx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.63 PITX2 Ivone Leong commented on gene: PITX2
Pituitary hormone deficiency v0.62 SLC15A4 Ivone Leong Publications for gene: SLC15A4 were set to
Pituitary hormone deficiency v0.61 GNRHR Ivone Leong Classified gene: GNRHR as Green List (high evidence)
Pituitary hormone deficiency v0.61 GNRHR Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GNRHR is confirmed to be associated with Hypogonadotropic hypogonadism in OMIM but no phenotypes have been listed in Gene2Phenotype. It is also a green gene in the Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with Hypogonadotropic hypogonadism with variants in the GNRHR gene listed in OMIM.
Pituitary hormone deficiency v0.61 GNRHR Ivone Leong Gene: gnrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.60 GHSR Ivone Leong Classified gene: GHSR as Green List (high evidence)
Pituitary hormone deficiency v0.60 GHSR Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GHSR is confirmed to be associated with isolated partial growth hormone deficiency in OMIM but no phenotypes are listed in Gene2Phenotype. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the GHSR gene.
Pituitary hormone deficiency v0.60 GHSR Ivone Leong Gene: ghsr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.59 GHSR Ivone Leong Publications for gene: GHSR were set to
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 v0.57 ZIC2 Ivone Leong Classified gene: ZIC2 as Red List (low evidence)
Pituitary hormone deficiency v0.57 ZIC2 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. ZIC2 is confirmed to be associated with holoprosencephaly in OMIM and Gene2Phenotype and is a green gene in the holoprosencephaly panel (Version 1.6). However, there is only one case of a patient with holoprosencephaly with a variant in ZIC2 who has pituitary hormone deficiency.
Pituitary hormone deficiency v0.57 ZIC2 Ivone Leong Gene: zic2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.56 ZIC2 Ivone Leong Publications for gene: ZIC2 were set to
Pituitary hormone deficiency v0.55 SIX3 Ivone Leong Classified gene: SIX3 as Red List (low evidence)
Pituitary hormone deficiency v0.55 SIX3 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. SIX3 is confirmed to be associated with Holoprosencephaly in OMIM and Gene2Phenotype and is a green gene on the Holoprosencephaly gene panel (Version 1.6). However, there is no evidence that patients with Holoprosencephaly with variants in the SIX3 gene has pituitary hormone deficiency.
Pituitary hormone deficiency v0.55 SIX3 Ivone Leong Gene: six3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.54 PSTPIP1 Ivone Leong Classified gene: PSTPIP1 as Red List (low evidence)
Pituitary hormone deficiency v0.54 PSTPIP1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red as no evidence of variants in PSTPAP1 associated with Holoprosencephaly.
Pituitary hormone deficiency v0.54 PSTPIP1 Ivone Leong Gene: pstpip1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.53 PTCH1 Ivone Leong Classified gene: PTCH1 as Red List (low evidence)
Pituitary hormone deficiency v0.53 PTCH1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. PTCH1 is confirmed to be associated with Holoprosencephaly 7 in OMIM and Gene2Phenotype, and it is a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one reported case of a patient with Holoprosencephaly with a variant in the PTCH1 gene who has panhypopituitarism.
Pituitary hormone deficiency v0.53 PTCH1 Ivone Leong Gene: ptch1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.52 PTCH1 Ivone Leong Publications for gene: PTCH1 were set to
Pituitary hormone deficiency v0.51 NODAL Ivone Leong Classified gene: NODAL as Red List (low evidence)
Pituitary hormone deficiency v0.51 NODAL Ivone Leong Added comment: Comment on list classification: Demonted from amber to red. NODAL is a red gene on the Holoprosencephaly panel (Version 1.6) and there is insufficient evidence to suggest it is involved in pituitary hormone deficiency.
Pituitary hormone deficiency v0.51 NODAL Ivone Leong Gene: nodal has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.50 FOXA2 Ivone Leong Mode of inheritance for gene: FOXA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v0.49 FOXA2 Ivone Leong Classified gene: FOXA2 as Green List (high evidence)
Pituitary hormone deficiency v0.49 FOXA2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. FOXA2 is not associated with any phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with congenical hypopituitarism who have de novo variants in FOX2A gene.
Pituitary hormone deficiency v0.49 FOXA2 Ivone Leong Gene: foxa2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.48 FOXA2 Ivone Leong Publications for gene: FOXA2 were set to
Pituitary hormone deficiency v0.47 FOXA2 Ivone Leong Phenotypes for gene: FOXA2 were changed from No OMIM number; hypopituitarism to No OMIM number; Congenital hypopituitarism; Congenital hyperinsulinism
Pituitary hormone deficiency v0.46 FOXA2 Ivone Leong Phenotypes for gene: FOXA2 were changed from No OMIM number to No OMIM number; hypopituitarism
Pituitary hormone deficiency v0.45 IGSF1 Ivone Leong Classified gene: IGSF1 as Green List (high evidence)
Pituitary hormone deficiency v0.45 IGSF1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. IGSF1 is confirmed to be associated with Hypothyroidism, central, and testicular enlargement in OMIM and Gene2Phenotypes. It is a green gene in the Congenital hypothyroidism panel (Version 1.4). There are >3 unrelated cases of patients with variants in IGSF1 who have pituitary hormone deficiency.
Pituitary hormone deficiency v0.45 IGSF1 Ivone Leong Gene: igsf1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.44 IGSF1 Ivone Leong Publications for gene: IGSF1 were set to
Pituitary hormone deficiency v0.43 CDON Ivone Leong Classified gene: CDON as Amber List (moderate evidence)
Pituitary hormone deficiency v0.43 CDON Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. CDON is confirmed to be associated with Holoprosencephaly 11 in OMIM and Gene2Phenotype. There are 2 unrelated cases of patients with holoprosencephaly with LOF CDON variants with pituitary hormone deficiency.
Pituitary hormone deficiency v0.43 CDON Ivone Leong Gene: cdon has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.42 CDON Ivone Leong Publications for gene: CDON were set to
Pituitary hormone deficiency v0.41 PNPLA6 Ivone Leong Classified gene: PNPLA6 as Green List (high evidence)
Pituitary hormone deficiency v0.41 PNPLA6 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PNPLA6 is confirmed to be associated with the listed phenotypes in OMIM but not Gene2Phenotype. It is a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are 3 unrelated cases of patients diagnosed with Boucher-Neuhauser or Gordon Holmes syndromes who have LOF variants in PNPLA6.
Pituitary hormone deficiency v0.41 PNPLA6 Ivone Leong Gene: pnpla6 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.40 PNPLA6 Ivone Leong Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive (612020) to Boucher-Neuhauser syndrome (215470); Oliver-McFarlane syndrome (275400); Spastic paraplegia 39, autosomal recessive (612020)
Pituitary hormone deficiency v0.39 PNPLA6 Ivone Leong Publications for gene: PNPLA6 were set to
Pituitary hormone deficiency v0.38 GPR161 Ivone Leong commented on gene: GPR161
Pituitary hormone deficiency v0.38 GPR161 Ivone Leong Phenotypes for gene: GPR161 were changed from No OMIM number to No OMIM number; pituitary stalk interruption syndrome
Pituitary hormone deficiency v0.37 GPR161 Ivone Leong Publications for gene: GPR161 were set to
Pituitary hormone deficiency v0.36 ARNT2 Ivone Leong commented on gene: ARNT2
Pituitary hormone deficiency v0.36 ARNT2 Ivone Leong Publications for gene: ARNT2 were set to
Pituitary hormone deficiency v0.35 CHD7 Ivone Leong Classified gene: CHD7 as Green List (high evidence)
Pituitary hormone deficiency v0.35 CHD7 Ivone Leong Added comment: Comment on list classification: Promoted from red t gree. CHD7 is confirmed to be associated with Hypogonadotropic hypogonadism in OMIM and Gene2Phenotype. It is a green gene on the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated case of patients with Hypogonadotropic hypogonadism with variants in the CHD7 gene in OMIM.
Pituitary hormone deficiency v0.35 CHD7 Ivone Leong Gene: chd7 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.34 TGIF1 Ivone Leong Classified gene: TGIF1 as Red List (low evidence)
Pituitary hormone deficiency v0.34 TGIF1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. TGIF1 is confirmed to be associated with Holoprosencephaly 4 in OMIM and Gene2Phenotype. It is also a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one reported case of a patient with holoprosencephaly who has a missense variant in TGIF1.
Pituitary hormone deficiency v0.34 TGIF1 Ivone Leong Gene: tgif1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.33 TGIF1 Ivone Leong Publications for gene: TGIF1 were set to
Pituitary hormone deficiency v0.32 TCF7L1 Ivone Leong Classified gene: TCF7L1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.32 TCF7L1 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TCF7L1 is not associated with any phenotypes in OMIM or Gene2Phenotype. There is one study reporting a patient with septo-optic dysplasia with a missense variant in TCF7L1 who also has growth hormone deficiency. In vitro studies support that this variant reduced TCF7L1 protein function.
Pituitary hormone deficiency v0.32 TCF7L1 Ivone Leong Gene: tcf7l1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.31 TCF7L1 Ivone Leong Phenotypes for gene: TCF7L1 were changed from No OMIM number to No OMIM number; pituitary hormone deficiency
Pituitary hormone deficiency v0.30 TCF7L1 Ivone Leong Mode of inheritance for gene: TCF7L1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Pituitary hormone deficiency v0.29 TCF7L1 Ivone Leong Publications for gene: TCF7L1 were set to
Pituitary hormone deficiency v0.28 SHH Ivone Leong Classified gene: SHH as Amber List (moderate evidence)
Pituitary hormone deficiency v0.28 SHH Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. SHH is confirmed to be associated with Holoprosencephaly 3 in OMIM but not in Gene2Phenotype. It is also a green gene in the Holoprosencephaly panel (Version 1.6). However, there is only one report where two unrelated Dutch patients with combned pituitary hormone deficiency had variants in SHH. One missense variant is predicted to be pathogenic and another variant in the 3' UTR region was shown to decrease SHH expression in in vitro tests.
Pituitary hormone deficiency v0.28 SHH Ivone Leong Gene: shh has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.27 SHH Ivone Leong Publications for gene: SHH were set to
Pituitary hormone deficiency v0.26 PROKR2 Ivone Leong Classified gene: PROKR2 as Green List (high evidence)
Pituitary hormone deficiency v0.26 PROKR2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PROKR2 is confirmed to be associated with Hypogonadotropic hypogonadism 3 with or without anosmia in OMIM but not in Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities (Version 1.25) panel and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with growth/pituitary hormone deficiency who have variants in this gene.
Pituitary hormone deficiency v0.26 PROKR2 Ivone Leong Gene: prokr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.25 PROKR2 Ivone Leong Publications for gene: PROKR2 were set to
Pituitary hormone deficiency v0.24 PAX6 Ivone Leong commented on gene: PAX6
Pituitary hormone deficiency v0.24 PAX6 Ivone Leong Publications for gene: PAX6 were set to
Pituitary hormone deficiency v0.23 GLI3 Ivone Leong Classified gene: GLI3 as Green List (high evidence)
Pituitary hormone deficiency v0.23 GLI3 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. GLI3 is confirmed to be associated with Pallister Hall syndrome in OMIM and Gene2Phenotype. It is also a green gene in the IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with Pallister Hall syndrome with growth hormone deficiency who have variants in the GLI3 gene.
Pituitary hormone deficiency v0.23 GLI3 Ivone Leong Gene: gli3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.22 GLI3 Ivone Leong Publications for gene: GLI3 were set to
Pituitary hormone deficiency v0.21 FGFR1 Ivone Leong Classified gene: FGFR1 as Green List (high evidence)
Pituitary hormone deficiency v0.21 FGFR1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. FGFR1 is confirmed to be associated with the listed phenotypes in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities (Version 1.25), Hypogonadotropic hypogonadism (Version 1.15) and Holoprosencephaly (Version 1.6) panels. There are 3 unrelated cases of patients with growth hormone deficiency who have variants in the FGFR1 gene.
Pituitary hormone deficiency v0.21 FGFR1 Ivone Leong Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.20 FGFR1 Ivone Leong Publications for gene: FGFR1 were set to
Pituitary hormone deficiency v0.19 FGF8 Ivone Leong Classified gene: FGF8 as Green List (high evidence)
Pituitary hormone deficiency v0.19 FGF8 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. FGF8 is confirmed to be associated with Hypogonadotropic hypogonadism 6 with or without anosmia on OMIM only. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25). There are 3 unrelated cases of patients with Hypogonadotropic hypogonadism who have variants in FGF8.
Pituitary hormone deficiency v0.19 FGF8 Ivone Leong Gene: fgf8 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.18 FGF8 Ivone Leong Publications for gene: FGF8 were set to
Pituitary hormone deficiency v0.17 BMP4 Ivone Leong reviewed gene: BMP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.17 BMP2 Ivone Leong Publications for gene: BMP2 were set to
Pituitary hormone deficiency v0.16 BMP4 Ivone Leong Publications for gene: BMP4 were set to
Pituitary hormone deficiency v0.15 SOX3 Ivone Leong Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked (312000) to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)
Pituitary hormone deficiency v0.14 SOX3 Ivone Leong Classified gene: SOX3 as Green List (high evidence)
Pituitary hormone deficiency v0.14 SOX3 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. SOX3 is confirmed to be associated with Mental retardation, X-linked, with isolated growth hormone deficiency and X-linked panhypopituitarism in OMIM and Gene2Phenotype. It is also a green gene in IUGR and IGF abnormalities panel (Version 1.25). There are >3 unrelated cases of patients with growth hormone deficiency who have variants in SOX3.
Pituitary hormone deficiency v0.14 SOX3 Ivone Leong Gene: sox3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.13 SOX3 Ivone Leong Publications for gene: SOX3 were set to
Pituitary hormone deficiency v0.12 SOX2 Ivone Leong Classified gene: SOX2 as Green List (high evidence)
Pituitary hormone deficiency v0.12 SOX2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. The phenotypes for SOX2 are confirmed in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with the described phenotypes who have variants in the SOX2 gene. A mouse model (PMID: 16932809) with heterozygous Sox2 knocked out developed combined pituitary hormone deficiency.
Pituitary hormone deficiency v0.12 SOX2 Ivone Leong Gene: sox2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.11 SOX2 Ivone Leong Publications for gene: SOX2 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 v0.9 GH1 Ivone Leong commented on gene: GH1
Pituitary hormone deficiency v0.9 BTK Ivone Leong Added comment: Comment on publications: BTK is confirmed to be associated with isolated growth hormone deficiency in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients diagnosed with growth hormone deficiency who have variants in BTK.
Pituitary hormone deficiency v0.9 BTK Ivone Leong Publications for gene: BTK were set to
Pituitary hormone deficiency v0.8 KCNQ1 Ivone Leong Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.8 KCNQ1 Ivone Leong Added comment: Comment on list classification: Demoted from green to amber based on literature evidence. KCNQ1 is not associated with pituitary hormone deficiency in OMIM or Gene2Phenotype. PMID: 29097701 found that 3 unrelated families (2 Finnish and 1 Argentinian) with pituitary hormone deficiency and maternally inherited gingival fibromatosis have missense variants in the KCNQ1 gene.
Pituitary hormone deficiency v0.8 KCNQ1 Ivone Leong Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.7 KCNQ1 Ivone Leong Tag watchlist tag was added to gene: KCNQ1.
Pituitary hormone deficiency v0.7 BTK Ivone Leong gene: BTK was added
gene: BTK was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)
Pituitary hormone deficiency v0.7 TBX19 Ivone Leong gene: TBX19 was added
gene: TBX19 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency (201400)
Pituitary hormone deficiency v0.7 SLC20A1 Ivone Leong gene: SLC20A1 was added
gene: SLC20A1 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: SLC20A1 was set to Unknown
Phenotypes for gene: SLC20A1 were set to No OMIM number
Pituitary hormone deficiency v0.7 SLC15A4 Ivone Leong gene: SLC15A4 was added
gene: SLC15A4 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: SLC15A4 was set to Unknown
Phenotypes for gene: SLC15A4 were set to No OMIM number
Pituitary hormone deficiency v0.7 KCNQ1 Ivone Leong gene: KCNQ1 was added
gene: KCNQ1 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: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ1 were set to 29097701
Phenotypes for gene: KCNQ1 were set to Long QT syndrome 1 (192500); Pituitary hormone deficiency
Pituitary hormone deficiency v0.7 PITX2 Ivone Leong gene: PITX2 was added
gene: PITX2 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: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX2 were set to Axenfeld-Rieger syndrome, type 1 (180500); Anterior segment dysgenesis 4 (137600)
Pituitary hormone deficiency v0.7 GNRHR Ivone Leong gene: GNRHR was added
gene: GNRHR was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110)
Pituitary hormone deficiency v0.7 GHSR Ivone Leong gene: GHSR was added
gene: GHSR was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature
Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GHSR were set to Growth hormone deficiency, isolated partial (615925)
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)
Pituitary hormone deficiency v0.7 GH1 Ivone Leong gene: GH1 was added
gene: GH1 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: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type II (173100); Growth hormone deficiency, isolated, type IA (262400); Growth hormone deficiency, isolated, type IB (612781)
Pituitary hormone deficiency v0.7 FOXA2 Ivone Leong gene: FOXA2 was added
gene: FOXA2 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: FOXA2 was set to Unknown
Phenotypes for gene: FOXA2 were set to No OMIM number
Pituitary hormone deficiency v0.7 BMP2 Ivone Leong gene: BMP2 was added
gene: BMP2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Literature
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)
Pituitary hormone deficiency v0.7 ZIC2 Ivone Leong gene: ZIC2 was added
gene: ZIC2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5 (609637)
Pituitary hormone deficiency v0.7 SIX3 Ivone Leong gene: SIX3 was added
gene: SIX3 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170)
Pituitary hormone deficiency v0.7 PSTPIP1 Ivone Leong gene: PSTPIP1 was added
gene: PSTPIP1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416); Holoprosencephaly
Pituitary hormone deficiency v0.7 PTCH1 Ivone Leong gene: PTCH1 was added
gene: PTCH1 was added to Pituitary hormone deficiency. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (610828)
Pituitary hormone deficiency v0.7 NODAL Ivone Leong gene: NODAL was added
gene: NODAL was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NODAL were set to Holoprosencephaly; Heterotaxy, visceral, 5 (270100)
Pituitary hormone deficiency v0.7 FOXH1 Ivone Leong gene: FOXH1 was added
gene: FOXH1 was added to Pituitary hormone deficiency. Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FOXH1 was set to Unknown
Phenotypes for gene: FOXH1 were set to Holoprosencephaly; No OMIM number
Pituitary hormone deficiency v0.6 OTX2 Ivone Leong Deleted their comment
Pituitary hormone deficiency v0.6 OTX2 Ivone Leong commented on gene: OTX2: OTX2 is confirmed to be associated with combined pituitary hormone deficiency 6 in OMIM but not on Gene2Phenotype. OTX2 is a green gene on the Congenital hypothyroidism panel (Version 1.4) and Anophthalmia or microphthalmia panel (Version 1.15). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who also have eye abnormalities (i.e. microphthalmia) with variants in OTX2.
Pituitary hormone deficiency v0.6 GLI2 Ivone Leong commented on gene: GLI2
Pituitary hormone deficiency v0.6 GLI2 Ivone Leong Publications for gene: GLI2 were set to
Pituitary hormone deficiency v0.5 WDR11 Ivone Leong gene: WDR11 was added
gene: WDR11 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia (614858)
Pituitary hormone deficiency v0.5 RBM28 Ivone Leong gene: RBM28 was added
gene: RBM28 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM28 were set to ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
Pituitary hormone deficiency v0.5 POLR3A Ivone Leong gene: POLR3A was added
gene: POLR3A was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)
Pituitary hormone deficiency v0.5 HNRNPU Ivone Leong gene: HNRNPU was added
gene: HNRNPU was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPU were set to Epileptic encephalopathy, early infantile, 54 (617391)
Pituitary hormone deficiency v0.5 HHIP Ivone Leong gene: HHIP was added
gene: HHIP was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: HHIP was set to Unknown
Phenotypes for gene: HHIP were set to No OMIM number
Pituitary hormone deficiency v0.5 GPR161 Ivone Leong gene: GPR161 was added
gene: GPR161 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: GPR161 was set to Unknown
Phenotypes for gene: GPR161 were set to No OMIM number
Pituitary hormone deficiency v0.5 CDON Ivone Leong gene: CDON was added
gene: CDON was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226)
Pituitary hormone deficiency v0.5 TGIF1 Ivone Leong gene: TGIF1 was added
gene: TGIF1 was added to Pituitary hormone deficiency. Sources: UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4 (142946)
Pituitary hormone deficiency v0.5 PROKR2 Ivone Leong gene: PROKR2 was added
gene: PROKR2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200)
Pituitary hormone deficiency v0.5 CHD7 Ivone Leong gene: CHD7 was added
gene: CHD7 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to CHARGE syndrome (214800); Hypogonadotropic hypogonadism 5 with or without anosmia (612370)
Pituitary hormone deficiency v0.5 ZSWIM6 Ivone Leong gene: ZSWIM6 was added
gene: ZSWIM6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (603671); Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865)
Pituitary hormone deficiency v0.5 TCF7L1 Ivone Leong gene: TCF7L1 was added
gene: TCF7L1 was added to Pituitary hormone deficiency. Sources: Literature
Mode of inheritance for gene: TCF7L1 was set to Unknown
Phenotypes for gene: TCF7L1 were set to No OMIM number
Pituitary hormone deficiency v0.5 SHH Ivone Leong gene: SHH was added
gene: SHH was added to Pituitary hormone deficiency. Sources: UKGTN,Radboud University Medical Center
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)
Pituitary hormone deficiency v0.5 PNPLA6 Ivone Leong gene: PNPLA6 was added
gene: PNPLA6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive (612020)
Pituitary hormone deficiency v0.5 IGSF1 Ivone Leong gene: IGSF1 was added
gene: IGSF1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement (300888)
Pituitary hormone deficiency v0.5 BMP4 Ivone Leong gene: BMP4 was added
gene: BMP4 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6 (607932)
Pituitary hormone deficiency v0.5 ARNT2 Ivone Leong gene: ARNT2 was added
gene: ARNT2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARNT2 were set to ?Webb-Dattani syndrome (615926)
Pituitary hormone deficiency v0.5 PAX6 Ivone Leong gene: PAX6 was added
gene: PAX6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to Aniridia (106210)
Pituitary hormone deficiency v0.5 GLI3 Ivone Leong gene: GLI3 was added
gene: GLI3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)
Pituitary hormone deficiency v0.5 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR1 were set to Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465); Pfeiffer syndrome (101600); Jackson-Weiss syndrome (123150)
Pituitary hormone deficiency v0.5 FGF8 Ivone Leong gene: FGF8 was added
gene: FGF8 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia (612702)
Pituitary hormone deficiency v0.5 SOX3 Ivone Leong gene: SOX3 was added
gene: SOX3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000)
Pituitary hormone deficiency v0.5 SOX2 Ivone Leong gene: SOX2 was added
gene: SOX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900)
Pituitary hormone deficiency v0.5 GLI2 Ivone Leong gene: GLI2 was added
gene: GLI2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)
Pituitary hormone deficiency v0.4 OTX2 Ivone Leong Publications for gene: OTX2 were set to
Pituitary hormone deficiency v0.3 OTX2 Ivone Leong Marked gene: OTX2 as ready
Pituitary hormone deficiency v0.3 OTX2 Ivone Leong Added comment: Comment when marking as ready: OTX2 is confirmed to be associated with combined pituitary hormone deficiency 6 in OMIM but not on Gene2Phenotype. OTX2 is a green gene on the Congenital hypothyroidism panel (Version 1.4) and Anophthalmia or microphthalmia panel (Version 1.15). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who also have eye abnormalities (i.e. microphthalmia) with variants in OTX2.
Pituitary hormone deficiency v0.3 OTX2 Ivone Leong Gene: otx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.3 PROP1 Ivone Leong commented on gene: PROP1
Pituitary hormone deficiency v0.3 POU1F1 Ivone Leong commented on gene: POU1F1
Pituitary hormone deficiency v0.3 LHX4 Ivone Leong commented on gene: LHX4
Pituitary hormone deficiency v0.3 LHX4 Ivone Leong Publications for gene: LHX4 were set to
Pituitary hormone deficiency v0.2 LHX3 Ivone Leong commented on gene: LHX3
Pituitary hormone deficiency v0.2 HESX1 Ivone Leong commented on gene: HESX1
Pituitary hormone deficiency v0.2 HESX1 Ivone Leong Publications for gene: HESX1 were set to
Pituitary hormone deficiency v0.1 PROP1 Ivone Leong gene: PROP1 was added
gene: PROP1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 (262600)
Pituitary hormone deficiency v0.1 LHX3 Ivone Leong gene: LHX3 was added
gene: LHX3 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750)
Pituitary hormone deficiency v0.1 HESX1 Ivone Leong gene: HESX1 was added
gene: HESX1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)
Pituitary hormone deficiency v0.1 POU1F1 Ivone Leong gene: POU1F1 was added
gene: POU1F1 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1 (613038)
Pituitary hormone deficiency v0.1 OTX2 Ivone Leong gene: OTX2 was added
gene: OTX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)
Pituitary hormone deficiency v0.1 LHX4 Ivone Leong gene: LHX4 was added
gene: LHX4 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)
Pituitary hormone deficiency v0.0 Ellen McDonagh Added Panel Pituitary hormone deficiency
Set panel types to: GMS Rare Disease Virtual