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Monogenic short stature v1.30 SHOX Achchuthan Shanmugasundram Tag technical-limitations tag was added to gene: SHOX.
Monogenic short stature v1.30 SHOX Achchuthan Shanmugasundram Classified gene: SHOX as Amber List (moderate evidence)
Monogenic short stature v1.30 SHOX Achchuthan Shanmugasundram Gene: shox has been classified as Amber List (Moderate Evidence).
Monogenic short stature v1.29 SHOX Achchuthan Shanmugasundram reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic short stature v1.29 SLC13A1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC13A1.
Monogenic short stature v1.29 NLRP5 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620333) and the OMIM record was last accessed on 18 December 2025.
Monogenic short stature v1.29 NLRP5 Achchuthan Shanmugasundram Phenotypes for gene: NLRP5 were changed from IUGR; Short stature; Failure to thrive; body asymmetry; multilocus imprinting disturbances to Oocyte/zygote/embryo maturation arrest 19, OMIM:620333; oocyte/zygote/embryo maturation arrest 19, MONDO:0957231
Monogenic short stature v1.28 NLRP2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620332) and the OMIM record was last accessed on 18 December 2025.
Monogenic short stature v1.28 NLRP2 Achchuthan Shanmugasundram Phenotypes for gene: NLRP2 were changed from Maternal effect gene- causing phenotypes that include IUGR to Oocyte/zygote/embryo maturation arrest 18, OMIM:620332; oocyte/zygote/embryo maturation arrest 18, MONDO:0957230
Monogenic short stature v1.27 SPOUT1 Ida Ertmanska reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.27 SMC5 Ida Ertmanska reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.27 SLF2 Ida Ertmanska reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.27 SLC13A1 Ida Ertmanska reviewed gene: SLC13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.27 RSPRY1 Ida Ertmanska reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.27 RNPC3 Ida Ertmanska reviewed gene: RNPC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.27 RECQL4 Ida Ertmanska reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.27 PAPPA2 Ida Ertmanska commented on gene: PAPPA2
Monogenic short stature v1.27 MSTO1 Ida Ertmanska commented on gene: MSTO1
Monogenic short stature v1.27 GH1 Ida Ertmanska reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.27 FBXO22 Ida Ertmanska reviewed gene: FBXO22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 SPOUT1 Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: SPOUT1.
Monogenic short stature v1.26 SMC5 Ida Ertmanska Tag Q3_24_promote_green was removed from gene: SMC5.
Monogenic short stature v1.26 SLF2 Ida Ertmanska Tag Q3_24_promote_green was removed from gene: SLF2.
Monogenic short stature v1.26 SLC13A1 Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: SLC13A1.
Monogenic short stature v1.26 RSPRY1 Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: RSPRY1.
Monogenic short stature v1.26 RNPC3 Ida Ertmanska Tag Q2_25_ demote_red was removed from gene: RNPC3.
Tag Q2_25_expert_review was removed from gene: RNPC3.
Tag Q2_25_ phenotype was removed from gene: RNPC3.
Monogenic short stature v1.26 RECQL4 Ida Ertmanska Tag Q3_24_promote_green was removed from gene: RECQL4.
Tag Q3_24_NHS_review was removed from gene: RECQL4.
Monogenic short stature v1.26 MSTO1 Ida Ertmanska Tag Q3_24_NHS_review was removed from gene: MSTO1.
Tag Q3_24_MOI was removed from gene: MSTO1.
Monogenic short stature v1.26 GH1 Ida Ertmanska Tag Q1_25_ NHS_review was removed from gene: GH1.
Tag Q1_25_ promote_green was removed from gene: GH1.
Monogenic short stature v1.26 FBXO22 Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: FBXO22.
Monogenic short stature v1.26 PAPPA2 Ida Ertmanska Tag Q3_24_promote_green was removed from gene: PAPPA2.
Tag Q3_24_NHS_review was removed from gene: PAPPA2.
Tag Q3_24_expert_review was removed from gene: PAPPA2.
Tag to_be_confirmed_NHSE tag was added to gene: PAPPA2.
Monogenic short stature v1.26 SPOUT1 Ida Ertmanska reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 SMC5 Ida Ertmanska reviewed gene: SMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 SLF2 Ida Ertmanska reviewed gene: SLF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 SLC13A1 Ida Ertmanska reviewed gene: SLC13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 RSPRY1 Ida Ertmanska reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 RNPC3 Ida Ertmanska reviewed gene: RNPC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 RECQL4 Ida Ertmanska reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 PAPPA2 Ida Ertmanska commented on gene: PAPPA2
Monogenic short stature v1.26 MSTO1 Ida Ertmanska commented on gene: MSTO1
Monogenic short stature v1.26 GH1 Ida Ertmanska reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.26 FBXO22 Ida Ertmanska reviewed gene: FBXO22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Monogenic short stature v1.25 SPOUT1 Ida Ertmanska Source Expert Review Green was added to SPOUT1.
Source NHS GMS was added to SPOUT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic short stature v1.25 SMC5 Ida Ertmanska Source Expert Review Green was added to SMC5.
Source NHS GMS was added to SMC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic short stature v1.25 SLF2 Ida Ertmanska Source Expert Review Green was added to SLF2.
Source NHS GMS was added to SLF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic short stature v1.25 SLC13A1 Ida Ertmanska Source Expert Review Green was added to SLC13A1.
Source NHS GMS was added to SLC13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic short stature v1.25 RSPRY1 Ida Ertmanska Source Expert Review Green was added to RSPRY1.
Source NHS GMS was added to RSPRY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic short stature v1.25 RNPC3 Ida Ertmanska Source Expert Review Red was added to RNPC3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Monogenic short stature v1.25 RECQL4 Ida Ertmanska Source Expert Review Green was added to RECQL4.
Source NHS GMS was added to RECQL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic short stature v1.25 MSTO1 Ida Ertmanska Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature v1.25 GH1 Ida Ertmanska Source Expert Review Green was added to GH1.
Source NHS GMS was added to GH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic short stature v1.25 FBXO22 Ida Ertmanska Source Expert Review Green was added to FBXO22.
Source NHS GMS was added to FBXO22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Monogenic short stature v1.24 BTK Ida Ertmanska Classified gene: BTK as Red List (low evidence)
Monogenic short stature v1.24 BTK Ida Ertmanska Gene: btk has been classified as Red List (Low Evidence).
Monogenic short stature v1.23 BTK Ida Ertmanska Tag disputed tag was added to gene: BTK.
Monogenic short stature v1.23 BTK Ida Ertmanska reviewed gene: BTK: Rating: RED; Mode of pathogenicity: None; Publications: 7849697, 8013627, 1880652; Phenotypes: Isolated growth hormone deficiency, type III, with agammaglobulinemia, OMIM:307200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Monogenic short stature v1.23 SPOUT1 Arina Puzriakova Phenotypes for gene: SPOUT1 were changed from SPOUT1 Associated Development delay Microcephaly Seizures Short stature to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Monogenic short stature v1.22 RREB1 Achchuthan Shanmugasundram edited their review of gene: RREB1: Changed rating: RED
Monogenic short stature v1.22 RREB1 Achchuthan Shanmugasundram Classified gene: RREB1 as Red List (low evidence)
Monogenic short stature v1.22 RREB1 Achchuthan Shanmugasundram Added comment: Comment on list classification: The eligibility criteria for R453 in the National Genomic Test Directory specifies that the patients should have the height at <-3 SD below mean for the age to be included on this panel. As the reported patients do not meet this criteria, this gene has been rated red with the current evidence.

This gene has already been proposed for green rating on R29 Intellectual disability panel and hence will feed into R27 Paediatric disorders.
Monogenic short stature v1.22 RREB1 Achchuthan Shanmugasundram Gene: rreb1 has been classified as Red List (Low Evidence).
Monogenic short stature v1.21 RREB1 Achchuthan Shanmugasundram Phenotypes for gene: RREB1 were changed from Rasopathy; Noonan-like; developmental disorder to RASopathy, MONDO:0021060
Monogenic short stature v1.20 RREB1 Achchuthan Shanmugasundram Publications for gene: RREB1 were set to PMID: 40418122
Monogenic short stature v1.19 RREB1 Achchuthan Shanmugasundram changed review comment from: PMID:38332451 (2024) reported the first patient with RREB1-associated Noonan-like RASopathy. A pathogenic de novo variant in RREB1 gene was identified by whole-genome sequencing and was confirmed by Sanger sequencing in the proband (c.2677del/ p.Ala893Argfs*20). The patient presented with severe intellectual disability, delayed motor skills, short stature, short neck, and distinctive facial dysmorphisms. The height and weight of the patient was <3 centile at 3.25 years of age.

PMID:40418122 (2025) reported a cohort of six individuals with a RASopathy phenotype, which include mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay. They were identified with six different truncating RREB1 variants via exome sequencing (five patients with de novo and one patient with paternally inherited variants). Although all reported patients had relative short stature, only one patient had -2SD below mean for the age.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:38332451 (2024) reported the first patient with RREB1-associated Noonan-like RASopathy. A pathogenic de novo variant in RREB1 gene was identified by whole-genome sequencing and was confirmed by Sanger sequencing in the proband (c.2677del/ p.Ala893Argfs*20). The patient presented with severe intellectual disability, delayed motor skills, short stature, short neck, and distinctive facial dysmorphisms. The height and weight of the patient was <3 centile at 3.25 years of age.

PMID:40418122 (2025) reported a cohort of six individuals with a RASopathy phenotype, which include mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay. They were identified with six different truncating RREB1 variants via exome sequencing (five patients with de novo and one patient with paternally inherited variants). Only one of the six reported patients had the height of ~-2SD below mean for the age.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Monogenic short stature v1.19 RREB1 Achchuthan Shanmugasundram reviewed gene: RREB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38332451, 40418122; Phenotypes: RASopathy, MONDO:0021060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic short stature v1.19 QSOX2 Achchuthan Shanmugasundram Classified gene: QSOX2 as Amber List (moderate evidence)
Monogenic short stature v1.19 QSOX2 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although all three families were reported with short stature in PMID:39341815, there was only one family reported with height < -3 SD below mean (the eligibility criteria specified in the National Genomic Test Directory). There is also functional evidence available. Hence, this gene can be rated amber with current evidence.
Monogenic short stature v1.19 QSOX2 Achchuthan Shanmugasundram Gene: qsox2 has been classified as Amber List (Moderate Evidence).
Monogenic short stature v1.18 QSOX2 Achchuthan Shanmugasundram gene: QSOX2 was added
gene: QSOX2 was added to Monogenic short stature. Sources: Literature
Mode of inheritance for gene: QSOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QSOX2 were set to 39341815
Phenotypes for gene: QSOX2 were set to Maharaj Storr Syndrome
Review for gene: QSOX2 was set to AMBER
Added comment: PMID:39341815 reported five patients from three unrelated families presenting with short stature, immune dysfunction, atopic eczema and gastrointestinal dysmotility. They were identified with biallelic QSOX2 variants via whole exome/genome sequencing. A total of six different variants were identified from these patients.

Although all five patients were reported with short stature, only the twins from family 1 had height < -3 SD below mean for the age. Recurrent respiratory infections and atopic eczema was reported in four patients from three families, while this was absent in the father of family 2. Low IgM levels and abnormalities in some other immunological markers were only reported in twins from family 1.

There is also functional evidence available. Patient-derived fibroblasts showed defective STAT5B nuclear translocation despite enhanced phosphorylation, and demonstrated growth hormone-induced mitochondriopathy and reduced mitochondrial membrane potential.
Sources: Literature
Monogenic short stature v1.17 RREB1 Karen Stals gene: RREB1 was added
gene: RREB1 was added to Monogenic short stature. Sources: Literature
Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RREB1 were set to PMID: 40418122
Phenotypes for gene: RREB1 were set to Rasopathy; Noonan-like; developmental disorder
Penetrance for gene: RREB1 were set to Complete
Review for gene: RREB1 was set to GREEN
Added comment: 6 additional individuals with truncating variants in RREB1 gene and a Rasopathy phenotype, features including congenital heart disease, developmental delay, short stature, and dysmorphic facial features (PMID: 40418122). RREB1 encodes a transcriptional repressor of Ras-MAPK signalling. Supporting functional evidence and animal models.
Sources: Literature
Monogenic short stature v1.17 FBXO22 Achchuthan Shanmugasundram changed review comment from: As reviewed by Julia Baptista, PMID:40215970 reported 16 cases (15 affected children and one foetus) from 14 unrelated families presenting with a pleiotropic syndrome with prenatal onset growth restriction and notable neurodevelopmental delay. They were identified with four distinct homozygous FBXO22 variants with loss-of-function effects segregating with the disease. Intrauterine growth restriction was reported in nine patients from eight families, and short stature was reported in eight patients from seven families.

This gene has been associated with relevant phenotypes in OMIM (MIM #621184), but not yet in Gene2Phenotype.; to: As reviewed by Julia Baptista, PMID:40215970 reported 16 cases (15 affected children and one foetus) from 14 unrelated families presenting with a pleiotropic syndrome with prominent prenatal onset growth restriction and notable neurodevelopmental delay. They were identified with four distinct homozygous germline FBXO22 variants with loss-of-function effects segregating with the disease. Intrauterine growth restriction was reported in 11 patients from ten families, and short stature was reported in ten patients from nine families.

This gene has been associated with relevant phenotypes in OMIM (MIM #621184), but not yet in Gene2Phenotype.
Monogenic short stature v1.17 FBXO22 Achchuthan Shanmugasundram Tag Q2_25_ NHS_review was removed from gene: FBXO22.
Monogenic short stature v1.17 FBXO22 Achchuthan Shanmugasundram changed review comment from: As reviewed by Julia Baptista, PMID:40215970 reported 16 cases (15 affected children and one foetus) from 14 unrelated families presenting with a pleiotropic syndrome with prenatal onset growth restriction and notable neurodevelopmental delay. They were identified with four distinct homozygous FBXO22 variants with loss-of-function effects segregating with the disease. Intellectual disability was reported in six patients from five families.

This gene has been associated with relevant phenotypes in OMIM (MIM #621184), but not yet in Gene2Phenotype.; to: As reviewed by Julia Baptista, PMID:40215970 reported 16 cases (15 affected children and one foetus) from 14 unrelated families presenting with a pleiotropic syndrome with prenatal onset growth restriction and notable neurodevelopmental delay. They were identified with four distinct homozygous FBXO22 variants with loss-of-function effects segregating with the disease. Intrauterine growth restriction was reported in nine patients from eight families, and short stature was reported in eight patients from seven families.

This gene has been associated with relevant phenotypes in OMIM (MIM #621184), but not yet in Gene2Phenotype.
Monogenic short stature v1.17 FBXO22 Achchuthan Shanmugasundram Entity copied from Intellectual disability v9.20
Monogenic short stature v1.17 FBXO22 Achchuthan Shanmugasundram gene: FBXO22 was added
gene: FBXO22 was added to Monogenic short stature. Sources: Literature,Expert Review Amber
Q2_25_ promote_green, Q2_25_ NHS_review tags were added to gene: FBXO22.
Mode of inheritance for gene: FBXO22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO22 were set to 40215970
Phenotypes for gene: FBXO22 were set to Tayoun-Maawali syndrome, OMIM:621184
Monogenic short stature v1.16 IGFALS Sarah Leigh Phenotypes for gene: IGFALS were changed from Acid-labile subunit, deficiency of, OMIM:615961 to Acid-labile subunit, deficiency of, OMIM:615961; short stature due to primary acid-labile subunit deficiency, MONDO:0014420
Monogenic short stature v1.15 RNPC3 Sarah Leigh reviewed gene: RNPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Monogenic short stature v1.15 RNPC3 Sarah Leigh Tag Q2_25_expert_review tag was added to gene: RNPC3.
Monogenic short stature v1.15 RNPC3 Sarah Leigh Tag Q2_25_ demote_red tag was added to gene: RNPC3.
Tag Q2_25_ phenotype tag was added to gene: RNPC3.
Monogenic short stature v1.15 GH1 Sarah Leigh reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8496314, 8288694, 8552145, 10689634, 18554279, 17726075; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic short stature v1.15 GH1 Sarah Leigh Tag Q1_25_ NHS_review tag was added to gene: GH1.
Tag Q1_25_ promote_green tag was added to gene: GH1.
Monogenic short stature v1.15 GH1 Sarah Leigh Classified gene: GH1 as Amber List (moderate evidence)
Monogenic short stature v1.15 GH1 Sarah Leigh Gene: gh1 has been classified as Amber List (Moderate Evidence).
Monogenic short stature v1.14 GH1 Sarah Leigh Phenotypes for gene: GH1 were changed from Growth hormone deficiency to Growth hormone deficiency, isolated, type IA, OMIM:262400; Growth hormone deficiency, isolated, type IB, OMIM:612781; Growth hormone deficiency, isolated, type II, OMIM:173100; Growth hormone deficiency; Kowarski syndrome, OMIM:262650
Monogenic short stature v1.13 GAP43 Achchuthan Shanmugasundram changed review comment from: PMID:39738362 reported the identification of a heterozygous missense variant in the GAP43 gene (p.(Glu146Lys)) in a 15-year-old female patient with moderate intellectual disability, neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities.

The variant GAP43 protein was found to be unstable in neuronal cells and the disruption of Gap43 in mouse embryonic cortical neurons impaired axonal elongation and dendrite formation.

There were six previous cases reported with GAP43 abnormalities (4 involving deletion of a region including GAP43, one duplication and one SNV). Only one of these cases with region deletion had moderate ID, while two others had mild ID.
Sources: Literature; to: PMID:39738362 reported the identification of a heterozygous missense variant in the GAP43 gene (p.(Glu146Lys)) in a 15-year-old female patient with moderate intellectual disability, neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities.

The variant GAP43 protein was found to be unstable in neuronal cells and the disruption of Gap43 in mouse embryonic cortical neurons impaired axonal elongation and dendrite formation.

There were six previous cases reported with GAP43 abnormalities (3 involving deletion of a region including GAP43, two siblings with duplication and one SNV). Only one of the siblings with region duplication had moderate ID, while the other sibling and another patient with region deletion had mild ID.

This gene has not yet been associated with phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Monogenic short stature v1.13 GAP43 Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39738362 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Monogenic short stature v1.13 GAP43 Achchuthan Shanmugasundram Publications for gene: GAP43 were set to 39738362
Monogenic short stature v1.12 GAP43 Achchuthan Shanmugasundram gene: GAP43 was added
gene: GAP43 was added to Monogenic short stature. Sources: Literature
Mode of inheritance for gene: GAP43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GAP43 were set to 39738362
Phenotypes for gene: GAP43 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Review for gene: GAP43 was set to RED
Added comment: PMID:39738362 reported the identification of a heterozygous missense variant in the GAP43 gene (p.(Glu146Lys)) in a 15-year-old female patient with moderate intellectual disability, neurodevelopmental disorders, short stature, and skeletal abnormalities such as left-right difference in legs and digital deformities.

The variant GAP43 protein was found to be unstable in neuronal cells and the disruption of Gap43 in mouse embryonic cortical neurons impaired axonal elongation and dendrite formation.

There were six previous cases reported with GAP43 abnormalities (4 involving deletion of a region including GAP43, one duplication and one SNV). Only one of these cases with region deletion had moderate ID, while two others had mild ID.
Sources: Literature
Monogenic short stature v1.11 LRRC8C Achchuthan Shanmugasundram Classified gene: LRRC8C as Amber List (moderate evidence)
Monogenic short stature v1.11 LRRC8C Achchuthan Shanmugasundram Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Monogenic short stature v1.10 LRRC8C Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39623139 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Monogenic short stature v1.10 LRRC8C Achchuthan Shanmugasundram Publications for gene: LRRC8C were set to 39623139
Monogenic short stature v1.9 LRRC8C Achchuthan Shanmugasundram gene: LRRC8C was added
gene: LRRC8C was added to Monogenic short stature. Sources: Literature
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome, OMIM:621056
Mode of pathogenicity for gene: LRRC8C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: LRRC8C was set to AMBER
Added comment: PMID:39623139 reported two unrelated individuals with a multisystem disorder characterised by considerable phenotypic variability, but with overlapping features including telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature.

One patient had a 1-bp heterozygous insertion (p.(Leu400IlefsTer8)) in LRRC8C gene, while the other one had a heterozygous missense variant in the same gene (p.(Val390Leu)). There is also evidence from in vitro functional assay available. The evidence also suggests that both variants result in gain-of-function effect.

`This gene has been associated with relevant phenotype in OMIM (MIM #621056), but not yet in Gene2Phenotype.
Sources: Literature
Monogenic short stature v1.8 SLC13A1 Sarah Leigh Added comment: Comment on publications: PMID: 39925707 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Monogenic short stature v1.8 SLC13A1 Sarah Leigh Publications for gene: SLC13A1 were set to 39925707
Monogenic short stature v1.7 SLC13A1 Sarah Leigh Classified gene: SLC13A1 as Amber List (moderate evidence)
Monogenic short stature v1.7 SLC13A1 Sarah Leigh Gene: slc13a1 has been classified as Amber List (Moderate Evidence).
Monogenic short stature v1.6 SLC13A1 Sarah Leigh gene: SLC13A1 was added
gene: SLC13A1 was added to Monogenic short stature. Sources: Literature
Q1_25_ promote_green tags were added to gene: SLC13A1.
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A1 were set to 39925707
Phenotypes for gene: SLC13A1 were set to impaired sulfate transport and skeletal dysplasia
Review for gene: SLC13A1 was set to GREEN
Added comment: PMID: 39925707 reports five biallelic SLC13A1 variants in five children with skeletal phenotypes from four unrelated families. Inheritance of the variants from the parents has been established in all cases. Functional studies suggested that the SLC13A1 variants resulted in complete loss of sulfate transport activity, evidence of this was seen when two of the probands were tested and found to have reduction in plasma sulfate level and/or increase in urinary sulfate excretion (PMID: 39925707).
Sources: Literature
Monogenic short stature v1.5 SPOUT1 Sarah Leigh Classified gene: SPOUT1 as Amber List (moderate evidence)
Monogenic short stature v1.5 SPOUT1 Sarah Leigh Gene: spout1 has been classified as Amber List (Moderate Evidence).
Monogenic short stature v1.4 SPOUT1 Sarah Leigh Added comment: Comment on publications: PMID: 39962046 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Monogenic short stature v1.4 SPOUT1 Sarah Leigh Publications for gene: SPOUT1 were set to 39962046
Monogenic short stature v1.3 SPOUT1 Sarah Leigh gene: SPOUT1 was added
gene: SPOUT1 was added to Monogenic short stature. Sources: Literature
Q1_25_ promote_green tags were added to gene: SPOUT1.
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to SPOUT1 Associated Development delay Microcephaly Seizures Short stature
Review for gene: SPOUT1 was set to GREEN
Added comment: PMID: 39962046 reports the association of biallelic SPOUT1 variants with SPOUT1 Associated Development delay Microcephaly Seizures Short stature. In this study, a total of 18 SPOUT1 variants were found in 28 individuals from 21 unrelated families. Intellectual disability was evident in 10/10 families where it could be ascertained, seizures were reported in 16/21 of the families and short stature was seen in 13/15 families where it could be measured.
SPOUT1 variant zebra fish models showed reduction in larval head size with concomitant apoptosis and the human SPOUT1 missense variants were pathogenic in complementation assays in zebrafish (PMID: 39962046).
Sources: Literature
Monogenic short stature v1.2 RSPRY1 Arina Puzriakova Entity copied from Intellectual disability v8.143
Monogenic short stature v1.2 RSPRY1 Arina Puzriakova gene: RSPRY1 was added
gene: RSPRY1 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
Q1_25_ promote_green tags were added to gene: RSPRY1.
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPRY1 were set to 26365341; 30063090; 38562122; 39940902
Phenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
Monogenic short stature v1.1 GH1 Melissa Connolly reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone deficiency, Kowarski syndrome; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Monogenic short stature v1.1 RNPC3 Melissa Connolly reviewed gene: RNPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined or isolated, 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature v1.1 SMC5 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SMC5.
Tag Q3_24_promote_green tag was added to gene: SMC5.
Monogenic short stature v1.1 SLF2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: SLF2.
Tag Q3_24_promote_green tag was added to gene: SLF2.
Monogenic short stature v1.1 RECQL4 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: RECQL4.
Tag Q1_24_NHS_review was removed from gene: RECQL4.
Tag Q3_24_promote_green tag was added to gene: RECQL4.
Tag Q3_24_NHS_review tag was added to gene: RECQL4.
Monogenic short stature v1.1 MSTO1 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: MSTO1.
Tag Q1_24_NHS_review was removed from gene: MSTO1.
Tag Q3_24_NHS_review tag was added to gene: MSTO1.
Tag Q3_24_MOI tag was added to gene: MSTO1.
Monogenic short stature v1.1 PAPPA2 Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from gene: PAPPA2.
Tag Q1_24_NHS_review was removed from gene: PAPPA2.
Tag Q1_24_expert_review was removed from gene: PAPPA2.
Tag Q3_24_promote_green tag was added to gene: PAPPA2.
Tag Q3_24_NHS_review tag was added to gene: PAPPA2.
Tag Q3_24_expert_review tag was added to gene: PAPPA2.
Monogenic short stature v1.1 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
Monogenic short stature v1.1 CENPJ Arina Puzriakova commented on gene: CENPJ
Monogenic short stature v1.1 GH1 Adam Gunning reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic short stature v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-08-07
Monogenic short stature v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Monogenic short stature v0.191 Achchuthan Shanmugasundram Panel status changed from internal to public
Monogenic short stature v0.190 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Monogenic short stature v0.189 LIG4 Achchuthan Shanmugasundram Phenotypes for gene: LIG4 were changed from microcephaly, growth retardation, immunodeficiency, developmental delay to LIG4 syndrome, OMIM:606593; microcephaly, growth retardation, immunodeficiency, developmental delay
Monogenic short stature v0.188 PCNT Achchuthan Shanmugasundram Phenotypes for gene: PCNT were changed from MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Monogenic short stature v0.187 RNU4ATAC Achchuthan Shanmugasundram Phenotypes for gene: RNU4ATAC were changed from MOPD I to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
Monogenic short stature v0.186 XRCC4 Achchuthan Shanmugasundram Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
Monogenic short stature v0.185 ATRIP Achchuthan Shanmugasundram Phenotypes for gene: ATRIP were changed from microcephaly, micrognathia, small ear lobes, dental crowding to Microcephalic primordial dwarfism; Microcephaly, micrognathia, small ear lobes, dental crowding
Monogenic short stature v0.184 CDC6 Achchuthan Shanmugasundram Phenotypes for gene: CDC6 were changed from ?Meier-Gorlin syndrome 5, 613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia to Meier-Gorlin syndrome 5, OMIM:613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia
Monogenic short stature v0.183 GLI3 Achchuthan Shanmugasundram Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, OMIM:146510
Monogenic short stature v0.182 SLF2 Achchuthan Shanmugasundram changed review comment from: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly Severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association.

This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature; to: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association.

This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Monogenic short stature v0.182 Achchuthan Shanmugasundram Panel status changed from public to internal
Monogenic short stature v0.181 Achchuthan Shanmugasundram Panel status changed from internal to public
Monogenic short stature v0.180 SLF2 Achchuthan Shanmugasundram Classified gene: SLF2 as Amber List (moderate evidence)
Monogenic short stature v0.180 SLF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases) for the association of this gene with green rating in the next GMS update.
Monogenic short stature v0.180 SLF2 Achchuthan Shanmugasundram Gene: slf2 has been classified as Amber List (Moderate Evidence).
Monogenic short stature v0.179 SLF2 Achchuthan Shanmugasundram gene: SLF2 was added
gene: SLF2 was added to Monogenic short stature. Sources: Literature
Q2_24_promote_green tags were added to gene: SLF2.
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Atelis syndrome 1, OMIM:620184
Review for gene: SLF2 was set to GREEN
Added comment: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly Severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association.

This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Monogenic short stature v0.178 SMC5 Achchuthan Shanmugasundram Classified gene: SMC5 as Amber List (moderate evidence)
Monogenic short stature v0.178 SMC5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases) for the association of this gene with green rating in the next GMS update.
Monogenic short stature v0.178 SMC5 Achchuthan Shanmugasundram Gene: smc5 has been classified as Amber List (Moderate Evidence).
Monogenic short stature v0.177 SMC5 Achchuthan Shanmugasundram gene: SMC5 was added
gene: SMC5 was added to Monogenic short stature. Sources: Literature
Q2_24_promote_green tags were added to gene: SMC5.
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Atelis syndrome 2, OMIM:620185
Review for gene: SMC5 was set to GREEN
Added comment: PMID:36333305 reported four individuals from three families with a chromosome breakage disorder and biallelic SMC5 variants. Three individuals from two families were identified with the same homozygous missense variant (p.His990Asp), while the other individual had compound heterozygous variants (p.Arg372del & p.Arg425Ter). All four patients presented with markedly severe microcephaly and reduction in height.

Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect.

This gene has been associated with relevant phenotype in both OMIM (MIM #620185) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Monogenic short stature v0.176 PAPPA2 Arina Puzriakova Publications for gene: PAPPA2 were set to 26902202; 33875846
Monogenic short stature v0.175 PAPPA2 Arina Puzriakova commented on gene: PAPPA2: Inclusion of the PAPPA2 gene on this panel was previously reviewed and disagreed by the GMS expert group. However, this should now be re-evaluated in light of the new review Melissa Connolly (WMRGL GLH) stating that inclusion would benefit GLH interpretation.
Monogenic short stature v0.175 PAPPA2 Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: PAPPA2.
Tag Q1_24_NHS_review tag was added to gene: PAPPA2.
Tag Q1_24_expert_review tag was added to gene: PAPPA2.
Monogenic short stature v0.175 PAPPA2 Achchuthan Shanmugasundram changed review comment from: The following is the review left by Melissa Connolly (WMRGL GLH) for this gene in R147 Growth failure in early childhood panel (https://panelapp.genomicsengland.co.uk/panels/473/gene/PAPPA2/):

The addition of this gene to the panel would be useful from a GLH perspective for interpretation purposes. ACGS guidelines state that when trying to incorporate phenotypic data into classification of variants that all other known causes of the phenotype should be excluded. In practice we often receive biochemical data for patients who have abnormal endocrine results in the GH-IGF axis and using this information for assessment of variants becomes easier if all the genes known to cause defects in the GH-IGF1 axis have been included in the analysis.

Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal

Phenotypes: Short stature; dysmorphism; mild microcephaly

Publications: 31555216; Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf; to: The following is the review left by Melissa Connolly (WMRGL GLH) for this gene in R147 Growth failure in early childhood panel (https://panelapp.genomicsengland.co.uk/panels/473/gene/PAPPA2/):

The addition of this gene to the panel would be useful from a GLH perspective for interpretation purposes. ACGS guidelines state that when trying to incorporate phenotypic data into classification of variants that all other known causes of the phenotype should be excluded. In practice we often receive biochemical data for patients who have abnormal endocrine results in the GH-IGF axis and using this information for assessment of variants becomes easier if all the genes known to cause defects in the GH-IGF1 axis have been included in the analysis.

Rating: Green List (high evidence)
Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phenotypes: Short stature; dysmorphism; mild microcephaly
Publications: 31555216; Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf
Monogenic short stature v0.175 PAPPA2 Achchuthan Shanmugasundram commented on gene: PAPPA2: The following is the review left by Melissa Connolly (WMRGL GLH) for this gene in R147 Growth failure in early childhood panel (https://panelapp.genomicsengland.co.uk/panels/473/gene/PAPPA2/):

The addition of this gene to the panel would be useful from a GLH perspective for interpretation purposes. ACGS guidelines state that when trying to incorporate phenotypic data into classification of variants that all other known causes of the phenotype should be excluded. In practice we often receive biochemical data for patients who have abnormal endocrine results in the GH-IGF axis and using this information for assessment of variants becomes easier if all the genes known to cause defects in the GH-IGF1 axis have been included in the analysis.

Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal

Phenotypes: Short stature; dysmorphism; mild microcephaly

Publications: 31555216; Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf
Monogenic short stature v0.175 Achchuthan Shanmugasundram Panel status changed from public to internal
Monogenic short stature v0.174 Achchuthan Shanmugasundram Panel status changed from internal to public
Monogenic short stature v0.173 Eleanor Williams Panel status changed from public to internal
Monogenic short stature v0.172 Eleanor Williams Panel status changed from internal to public
Monogenic short stature v0.171 Eleanor Williams Panel status changed from public to internal
Monogenic short stature v0.170 Eleanor Williams Panel status changed from internal to public
Monogenic short stature v0.168 ISCA-37429-Loss Arina Puzriakova Entity copied from Growth failure in early childhood v3.87
Monogenic short stature v0.168 ISCA-37429-Loss Arina Puzriakova Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905
Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, OMIM:194190
Monogenic short stature v0.167 ISCA-37420-Loss Arina Puzriakova Entity copied from Growth failure in early childhood v3.87
Monogenic short stature v0.167 ISCA-37420-Loss Arina Puzriakova Region: ISCA-37420-Loss was added
Region: ISCA-37420-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen
Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315
Phenotypes for Region: ISCA-37420-Loss were set to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Monogenic short stature v0.166 ISCA-37406-Loss Arina Puzriakova Entity copied from Growth failure in early childhood v3.87
Monogenic short stature v0.166 ISCA-37406-Loss Arina Puzriakova Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37406-Loss were set to 16783566; 10573006
Phenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, OMIM:610543
Monogenic short stature v0.165 ISCA-37397-Loss Arina Puzriakova Entity copied from Growth failure in early childhood v3.86
Monogenic short stature v0.165 ISCA-37397-Loss Arina Puzriakova Region: ISCA-37397-Loss was added
Region: ISCA-37397-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen
Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37397-Loss were set to 18179902; 23765049; 21671380
Phenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, OMIM:611867
Monogenic short stature v0.164 ISCA-37392-Loss Arina Puzriakova Entity copied from Growth failure in early childhood v3.85
Monogenic short stature v0.164 ISCA-37392-Loss Arina Puzriakova Region: ISCA-37392-Loss was added
Region: ISCA-37392-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen
Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37392-Loss were set to 20301427
Phenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome, OMIM:194050
Monogenic short stature v0.163 ZPR1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.84
Monogenic short stature v0.163 ZPR1 Arina Puzriakova gene: ZPR1 was added
gene: ZPR1 was added to Monogenic short stature. Sources: Literature,Expert Review Red
founder-effect tags were added to gene: ZPR1.
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZPR1 were set to 29851065
Phenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Monogenic short stature v0.162 XRCC4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.84
Monogenic short stature v0.162 XRCC4 Arina Puzriakova gene: XRCC4 was added
gene: XRCC4 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to 25728776
Phenotypes for gene: XRCC4 were set to short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism
Monogenic short stature v0.161 WRN Arina Puzriakova Entity copied from Growth failure in early childhood v3.84
Monogenic short stature v0.161 WRN Arina Puzriakova gene: WRN was added
gene: WRN was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome
Monogenic short stature v0.160 THRB Arina Puzriakova Entity copied from Growth failure in early childhood v3.84
Monogenic short stature v0.160 THRB Arina Puzriakova gene: THRB was added
gene: THRB was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: THRB was set to Unknown
Monogenic short stature v0.159 TBCE Arina Puzriakova Entity copied from Growth failure in early childhood v3.84
Monogenic short stature v0.159 TBCE Arina Puzriakova gene: TBCE was added
gene: TBCE was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature v0.158 SPRED1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.84
Monogenic short stature v0.158 SPRED1 Arina Puzriakova gene: SPRED1 was added
gene: SPRED1 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 19443465; 21548021; 21649642; 19366998; 17704776
Phenotypes for gene: SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome
Monogenic short stature v0.157 SOX3 Arina Puzriakova Entity copied from Growth failure in early childhood v3.84
Monogenic short stature v0.157 SOX3 Arina Puzriakova gene: SOX3 was added
gene: SOX3 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: SOX3 were set to 15800844
Phenotypes for gene: SOX3 were set 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
Monogenic short stature v0.156 SOX2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.83
Monogenic short stature v0.156 SOX2 Arina Puzriakova gene: SOX2 was added
gene: SOX2 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic short stature v0.155 SMC3 Arina Puzriakova Entity copied from Growth failure in early childhood v3.83
Monogenic short stature v0.155 SMC3 Arina Puzriakova gene: SMC3 was added
gene: SMC3 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC3 were set to Cornelia De Lange
Monogenic short stature v0.154 SMC1A Arina Puzriakova Entity copied from Growth failure in early childhood v3.83
Monogenic short stature v0.154 SMC1A Arina Puzriakova gene: SMC1A was added
gene: SMC1A was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Monogenic short stature v0.153 SMARCAL1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.83
Monogenic short stature v0.153 SMARCAL1 Arina Puzriakova gene: SMARCAL1 was added
gene: SMARCAL1 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Monogenic short stature v0.152 SHOX2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.83
Monogenic short stature v0.152 SHOX2 Arina Puzriakova gene: SHOX2 was added
gene: SHOX2 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: SHOX2 was set to Unknown
Monogenic short stature v0.151 SAMD9 Arina Puzriakova Entity copied from Growth failure in early childhood v3.83
Monogenic short stature v0.151 SAMD9 Arina Puzriakova gene: SAMD9 was added
gene: SAMD9 was added to Monogenic short stature. Sources: Expert Review Red
missense tags were added to gene: SAMD9.
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, 617053
Monogenic short stature v0.150 RPS6KA3 Arina Puzriakova Entity copied from Growth failure in early childhood v3.82
Monogenic short stature v0.150 RPS6KA3 Arina Puzriakova gene: RPS6KA3 was added
gene: RPS6KA3 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: RPS6KA3 were set to Coffin Lowry
Monogenic short stature v0.149 RPL10 Arina Puzriakova Entity copied from Growth failure in early childhood v3.82
Monogenic short stature v0.149 RPL10 Arina Puzriakova gene: RPL10 was added
gene: RPL10 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPL10 were set to 25316788
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Monogenic short stature v0.148 ROR2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.82
Monogenic short stature v0.148 ROR2 Arina Puzriakova gene: ROR2 was added
gene: ROR2 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, OMIM:268310
Monogenic short stature v0.147 RNU4ATAC Arina Puzriakova Entity copied from Growth failure in early childhood v3.82
Monogenic short stature v0.147 RNU4ATAC Arina Puzriakova gene: RNU4ATAC was added
gene: RNU4ATAC was added to Monogenic short stature. Sources: Expert Review Red
locus-type-rna-small-nuclear tags were added to gene: RNU4ATAC.
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 21474760
Phenotypes for gene: RNU4ATAC were set to MOPD I
Monogenic short stature v0.146 RBBP8 Arina Puzriakova Entity copied from Growth failure in early childhood v3.82
Monogenic short stature v0.146 RBBP8 Arina Puzriakova gene: RBBP8 was added
gene: RBBP8 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBBP8 were set to 24389050; 21998596
Phenotypes for gene: RBBP8 were set to seckel syndrome but with proportionate head/height impairment, cafe au lair macules
Monogenic short stature v0.145 RAPSN Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.145 RAPSN Arina Puzriakova gene: RAPSN was added
gene: RAPSN was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence 2, OMIM:618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
Monogenic short stature v0.144 RAD21 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.144 RAD21 Arina Puzriakova gene: RAD21 was added
gene: RAD21 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, OMIM:614701
Monogenic short stature v0.143 PROP1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.143 PROP1 Arina Puzriakova gene: PROP1 was added
gene: PROP1 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined
Monogenic short stature v0.142 PROKR2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.142 PROKR2 Arina Puzriakova gene: PROKR2 was added
gene: PROKR2 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: PROKR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROKR2 were set to 22319038
Phenotypes for gene: PROKR2 were set to hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy
Monogenic short stature v0.141 POU1F1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.141 POU1F1 Arina Puzriakova gene: POU1F1 was added
gene: POU1F1 was added to Monogenic short stature. Sources: Expert Review Red
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 or isolated, 1, OMIM:613038; Variable degree of TSH deficiency
Monogenic short stature v0.140 PNPLA6 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.140 PNPLA6 Arina Puzriakova gene: PNPLA6 was added
gene: PNPLA6 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 25480986
Phenotypes for gene: PNPLA6 were set to Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
Monogenic short stature v0.139 PITX2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.139 PITX2 Arina Puzriakova gene: PITX2 was added
gene: PITX2 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PITX2 were set to AXENFELD-RIEGER SYNDROME
Monogenic short stature v0.138 PCNT Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.138 PCNT Arina Puzriakova gene: PCNT was added
gene: PCNT was added to Monogenic short stature. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 18157127; 18174396
Phenotypes for gene: PCNT were set to MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720
Monogenic short stature v0.137 PAPPA2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.137 PAPPA2 Arina Puzriakova gene: PAPPA2 was added
gene: PAPPA2 was added to Monogenic short stature. Sources: Expert Review Red,NHS GMS
gene-checked tags were added to gene: PAPPA2.
Mode of inheritance for gene: PAPPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAPPA2 were set to 26902202; 33875846
Phenotypes for gene: PAPPA2 were set to Short stature, Dauber-Argente type, OMIM:619489
Monogenic short stature v0.136 OTX2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.136 OTX2 Arina Puzriakova gene: OTX2 was added
gene: OTX2 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTX2 were set to 18728160
Phenotypes for gene: OTX2 were set to Microcephaly, bilateral anopthalmia, developmental delay, cleft palate
Monogenic short stature v0.135 ORC6 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.135 ORC6 Arina Puzriakova gene: ORC6 was added
gene: ORC6 was added to Monogenic short stature. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC6 were set to 21358632
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, OMIM:613803
Monogenic short stature v0.134 ORC4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.134 ORC4 Arina Puzriakova gene: ORC4 was added
gene: ORC4 was added to Monogenic short stature. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC4 were set to 21358632
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2, OMIM:613800
Monogenic short stature v0.133 ORC1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.133 ORC1 Arina Puzriakova gene: ORC1 was added
gene: ORC1 was added to Monogenic short stature. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC1 were set to 21358632
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, OMIM:224690
Monogenic short stature v0.132 NIPBL Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.132 NIPBL Arina Puzriakova gene: NIPBL was added
gene: NIPBL was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NIPBL were set to Cornelia De Lange
Monogenic short stature v0.131 MCM5 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.131 MCM5 Arina Puzriakova gene: MCM5 was added
gene: MCM5 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM5 were set to 28198391
Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8
Monogenic short stature v0.130 LIG4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.81
Monogenic short stature v0.130 LIG4 Arina Puzriakova gene: LIG4 was added
gene: LIG4 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG4 were set to 11779494; 16088910
Phenotypes for gene: LIG4 were set to microcephaly, growth retardation, immunodeficiency, developmental delay
Monogenic short stature v0.129 LIG1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.80
Monogenic short stature v0.129 LIG1 Arina Puzriakova gene: LIG1 was added
gene: LIG1 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to 1581963; 1351188
Phenotypes for gene: LIG1 were set to immunodeficiency, sun sensitivity, growth reatrdation
Monogenic short stature v0.128 LHX4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.128 LHX4 Arina Puzriakova gene: LHX4 was added
gene: LHX4 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX4 were set to 11567216, 18073311
Phenotypes for gene: LHX4 were set to hypopituitarism
Monogenic short stature v0.127 LHX3 Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.127 LHX3 Arina Puzriakova gene: LHX3 was added
gene: LHX3 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to GH, TSH, LH, FSH, PRL deficiencies
Monogenic short stature v0.126 KMT2D Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.126 KMT2D Arina Puzriakova gene: KMT2D was added
gene: KMT2D was added to Monogenic short stature. Sources: Expert Review Red,NHS GMS
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 31949313; 32083401; 21882399
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, OMIM:147920
Monogenic short stature v0.125 KHDC3L Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.125 KHDC3L Arina Puzriakova gene: KHDC3L was added
gene: KHDC3L was added to Monogenic short stature. Sources: Expert list,Expert Review Red
watchlist tags were added to gene: KHDC3L.
Mode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KHDC3L were set to 29574422
Phenotypes for gene: KHDC3L were set to IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss
Penetrance for gene: KHDC3L were set to unknown
Monogenic short stature v0.124 KDM6A Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.124 KDM6A Arina Puzriakova gene: KDM6A was added
gene: KDM6A was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: KDM6A were set to 23913813; 29914387; 31654559; 33674768
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, OMIM:300867
Monogenic short stature v0.123 INTS8 Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.123 INTS8 Arina Puzriakova gene: INTS8 was added
gene: INTS8 was added to Monogenic short stature. Sources: Literature
Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS8 were set to 28542170
Phenotypes for gene: INTS8 were set to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572
Monogenic short stature v0.122 INSR Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.122 INSR Arina Puzriakova gene: INSR was added
gene: INSR was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism
Monogenic short stature v0.121 IGFBP3 Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.121 IGFBP3 Arina Puzriakova gene: IGFBP3 was added
gene: IGFBP3 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: IGFBP3 was set to Unknown
Publications for gene: IGFBP3 were set to 10364674
Phenotypes for gene: IGFBP3 were set to Silver Russell Syndrome
Monogenic short stature v0.120 IGFBP1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.120 IGFBP1 Arina Puzriakova gene: IGFBP1 was added
gene: IGFBP1 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: IGFBP1 was set to Unknown
Publications for gene: IGFBP1 were set to 10364674
Phenotypes for gene: IGFBP1 were set to Silver-Russell Syndrome
Monogenic short stature v0.119 IFT172 Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.119 IFT172 Arina Puzriakova gene: IFT172 was added
gene: IFT172 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT172 were set to 25664603
Phenotypes for gene: IFT172 were set to GH deficiency, retinopathy, metaphyseal dysplasia
Monogenic short stature v0.118 HESX1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.118 HESX1 Arina Puzriakova gene: HESX1 was added
gene: HESX1 was added to Monogenic short stature. Sources: Expert Review Red
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, OMIM:182230; Pituitary hormone deficiency, combined, 5, OMIM:182230; Septooptic dysplasia, OMIM:182230
Monogenic short stature v0.117 HDAC8 Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.117 HDAC8 Arina Puzriakova gene: HDAC8 was added
gene: HDAC8 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to Cornelia De Lange
Monogenic short stature v0.116 H19 Arina Puzriakova Entity copied from Growth failure in early childhood v3.79
Monogenic short stature v0.116 H19 Arina Puzriakova gene: H19 was added
gene: H19 was added to Monogenic short stature. Sources: Expert Review Red
locus-type-rna-long-non-coding tags were added to gene: H19.
Mode of inheritance for gene: H19 was set to Other
Phenotypes for gene: H19 were set to Russell-Silver syndrome
Monogenic short stature v0.115 GPR161 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.115 GPR161 Arina Puzriakova gene: GPR161 was added
gene: GPR161 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: GPR161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR161 were set to 25322266
Phenotypes for gene: GPR161 were set to Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk
Monogenic short stature v0.114 GLI3 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.114 GLI3 Arina Puzriakova gene: GLI3 was added
gene: GLI3 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLI3 were set to 9054938
Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome
Monogenic short stature v0.113 GLI2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.113 GLI2 Arina Puzriakova gene: GLI2 was added
gene: GLI2 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI2 were set to Holoprosencephaly, hypopituitarism
Monogenic short stature v0.112 GINS3 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.112 GINS3 Arina Puzriakova gene: GINS3 was added
gene: GINS3 was added to Monogenic short stature. Sources: Expert Review Red,Literature
gene-checked tags were added to gene: GINS3.
Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS3 were set to 35603789
Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817
Penetrance for gene: GINS3 were set to unknown
Mode of pathogenicity for gene: GINS3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.111 GINS2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.111 GINS2 Arina Puzriakova gene: GINS2 was added
gene: GINS2 was added to Monogenic short stature. Sources: Literature,Expert Review Red
Mode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS2 were set to 34353863
Phenotypes for gene: GINS2 were set to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817
Penetrance for gene: GINS2 were set to unknown
Mode of pathogenicity for gene: GINS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.110 GHSR Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.110 GHSR Arina Puzriakova gene: GHSR was added
gene: GHSR was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GHSR were set to 16511605
Phenotypes for gene: GHSR were set to Idiopathic short stature, GH deficiency
Monogenic short stature v0.109 GHRHR Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.109 GHRHR Arina Puzriakova gene: GHRHR was added
gene: GHRHR was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHRHR were set to Growth hormone deficiency
Monogenic short stature v0.108 GH1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.108 GH1 Arina Puzriakova gene: GH1 was added
gene: GH1 was added to Monogenic short stature. Sources: Expert Review Red
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
Monogenic short stature v0.107 FGFR1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.107 FGFR1 Arina Puzriakova gene: FGFR1 was added
gene: FGFR1 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR1 were set to 22319038
Monogenic short stature v0.106 FGF8 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.106 FGF8 Arina Puzriakova gene: FGF8 was added
gene: FGF8 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF8 were set to 22319038
Phenotypes for gene: FGF8 were set to hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia
Monogenic short stature v0.105 FGD1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.105 FGD1 Arina Puzriakova gene: FGD1 was added
gene: FGD1 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to Aarskog
Monogenic short stature v0.104 FANCM Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.104 FANCM Arina Puzriakova gene: FANCM was added
gene: FANCM was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCM were set to 16116422; 19423727; 25078778
Phenotypes for gene: FANCM were set to Fanconi anemia, complementation group M, 614087
Monogenic short stature v0.103 ERCC8 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.103 ERCC8 Arina Puzriakova gene: ERCC8 was added
gene: ERCC8 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to cockayne
Monogenic short stature v0.102 ERCC6 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.102 ERCC6 Arina Puzriakova gene: ERCC6 was added
gene: ERCC6 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540
Monogenic short stature v0.101 EPHX1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.101 EPHX1 Arina Puzriakova gene: EPHX1 was added
gene: EPHX1 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: EPHX1 was set to Unknown
Phenotypes for gene: EPHX1 were set to ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800
Monogenic short stature v0.100 EP300 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.100 EP300 Arina Puzriakova gene: EP300 was added
gene: EP300 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EP300 were set to Rubenstein Taybi
Monogenic short stature v0.99 DOK7 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.99 DOK7 Arina Puzriakova gene: DOK7 was added
gene: DOK7 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: DOK7 was set to Unknown
Phenotypes for gene: DOK7 were set to Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150
Monogenic short stature v0.98 DNA2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.98 DNA2 Arina Puzriakova gene: DNA2 was added
gene: DNA2 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050; 31045292
Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807
Monogenic short stature v0.97 DHCR7 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.97 DHCR7 Arina Puzriakova gene: DHCR7 was added
gene: DHCR7 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith Lemli Opitz
Monogenic short stature v0.96 CRIPT Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.96 CRIPT Arina Puzriakova gene: CRIPT was added
gene: CRIPT was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIPT were set to PMC3912419
Phenotypes for gene: CRIPT were set to frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly
Monogenic short stature v0.95 CREBBP Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.95 CREBBP Arina Puzriakova gene: CREBBP was added
gene: CREBBP was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubenstein Taybi
Monogenic short stature v0.94 COL1A1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.94 COL1A1 Arina Puzriakova gene: COL1A1 was added
gene: COL1A1 was added to Monogenic short stature. Sources: Expert list
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to OI; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type III, 259420; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type IV, 166220
Monogenic short stature v0.93 CHD7 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.93 CHD7 Arina Puzriakova gene: CHD7 was added
gene: CHD7 was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD7 were set to 16400610
Phenotypes for gene: CHD7 were set to CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation; CHARGE syndrome, 214800
Monogenic short stature v0.92 CENPJ Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.92 CENPJ Arina Puzriakova gene: CENPJ was added
gene: CENPJ was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPJ were set to 20522431
Phenotypes for gene: CENPJ were set to seckel syndrome
Monogenic short stature v0.91 CDT1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.91 CDT1 Arina Puzriakova gene: CDT1 was added
gene: CDT1 was added to Monogenic short stature. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDT1 were set to 21358632
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, OMIM:613804
Monogenic short stature v0.90 CDC6 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.90 CDC6 Arina Puzriakova gene: CDC6 was added
gene: CDC6 was added to Monogenic short stature. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC6 were set to 21358632
Phenotypes for gene: CDC6 were set to ?Meier-Gorlin syndrome 5, 613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia
Monogenic short stature v0.89 ATRX Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.89 ATRX Arina Puzriakova gene: ATRX was added
gene: ATRX was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: ATRX was set to Unknown
Phenotypes for gene: ATRX were set to SGA, which is sometimes called intrauterine growth restriction (IUGR),
Monogenic short stature v0.88 ATRIP Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.88 ATRIP Arina Puzriakova gene: ATRIP was added
gene: ATRIP was added to Monogenic short stature. Sources: Expert Review Red
Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATRIP were set to 23144622
Phenotypes for gene: ATRIP were set to microcephaly, micrognathia, small ear lobes, dental crowding
Monogenic short stature v0.87 A2ML1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.87 A2ML1 Arina Puzriakova gene: A2ML1 was added
gene: A2ML1 was added to Monogenic short stature. Sources: Expert list,Expert Review Red,NHS GMS
Mode of inheritance for gene: A2ML1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: A2ML1 were set to 24939586; 25862627
Phenotypes for gene: A2ML1 were set to Noonan syndrome
Monogenic short stature v0.86 ZNF668 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.86 ZNF668 Arina Puzriakova gene: ZNF668 was added
gene: ZNF668 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: ZNF668.
Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF668 were set to 34313816; 26633546
Phenotypes for gene: ZNF668 were set to Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194
Monogenic short stature v0.85 VPS50 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.85 VPS50 Arina Puzriakova gene: VPS50 was added
gene: VPS50 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: VPS50.
Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS50 were set to 34037727
Phenotypes for gene: VPS50 were set to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685
Penetrance for gene: VPS50 were set to Complete
Monogenic short stature v0.84 SETD5 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.84 SETD5 Arina Puzriakova gene: SETD5 was added
gene: SETD5 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD5 were set to 28881385
Phenotypes for gene: SETD5 were set to Intellectual developmental disorder, autosomal dominant 23, OMIM:615761
Penetrance for gene: SETD5 were set to Incomplete
Monogenic short stature v0.83 RECQL4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.83 RECQL4 Arina Puzriakova gene: RECQL4 was added
gene: RECQL4 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
Q1_24_promote_green, Q1_24_NHS_review tags were added to gene: RECQL4.
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 25966250; 29462647; 31406625; 34155702; 35086131; 35781852; 37228773; 38021400
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, OMIM:268400
Penetrance for gene: RECQL4 were set to Complete
Monogenic short stature v0.82 RASA2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.82 RASA2 Arina Puzriakova gene: RASA2 was added
gene: RASA2 was added to Monogenic short stature. Sources: NHS GMS,Expert list,Expert Review Amber
Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA2 were set to 25049390
Phenotypes for gene: RASA2 were set to Noonan syndrome
Monogenic short stature v0.81 RAP1B Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.81 RAP1B Arina Puzriakova gene: RAP1B was added
gene: RAP1B was added to Monogenic short stature. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: RAP1B.
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAP1B were set to 32627184; 26280580
Phenotypes for gene: RAP1B were set to Syndromic intellectual disability; short stature
Monogenic short stature v0.80 RAD51 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.80 RAD51 Arina Puzriakova gene: RAD51 was added
gene: RAD51 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAD51 were set to 26681308; 26253028; 30907510
Phenotypes for gene: RAD51 were set to Fanconi anemia, complementation group R, OMIM:617244
Monogenic short stature v0.79 PADI6 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.79 PADI6 Arina Puzriakova gene: PADI6 was added
gene: PADI6 was added to Monogenic short stature. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: PADI6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PADI6 were set to 32928291; 29574422; 33221824
Phenotypes for gene: PADI6 were set to Short stature; IUGR; miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance
Penetrance for gene: PADI6 were set to unknown
Monogenic short stature v0.78 NLRP7 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.78 NLRP7 Arina Puzriakova gene: NLRP7 was added
gene: NLRP7 was added to Monogenic short stature. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NLRP7 were set to 28561018
Phenotypes for gene: NLRP7 were set to IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance; Hydatidiform mole, recurrent, 1 OMIM:231090; hydatidiform mole, recurrent, 1 MONDO:0009273
Penetrance for gene: NLRP7 were set to unknown
Monogenic short stature v0.77 NLRP5 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.77 NLRP5 Arina Puzriakova gene: NLRP5 was added
gene: NLRP5 was added to Monogenic short stature. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NLRP5 were set to 26323243; 29574422
Phenotypes for gene: NLRP5 were set to IUGR; Short stature; Failure to thrive; body asymmetry; multilocus imprinting disturbances
Penetrance for gene: NLRP5 were set to unknown
Monogenic short stature v0.76 NLRP2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.76 NLRP2 Arina Puzriakova gene: NLRP2 was added
gene: NLRP2 was added to Monogenic short stature. Sources: Expert list,Expert Review Amber
watchlist tags were added to gene: NLRP2.
Mode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NLRP2 were set to 26323243; 29574422; 19300480; 30877238; 33090377
Phenotypes for gene: NLRP2 were set to Maternal effect gene- causing phenotypes that include IUGR
Penetrance for gene: NLRP2 were set to unknown
Monogenic short stature v0.75 NF1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.75 NF1 Arina Puzriakova gene: NF1 was added
gene: NF1 was added to Monogenic short stature. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF1 were set to 26178382; 27247625; 30602027; 35633639; 36373817
Phenotypes for gene: NF1 were set to Neurofibromatosis-Noonan syndrome, OMIM:601321
Monogenic short stature v0.74 MRAS Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.74 MRAS Arina Puzriakova gene: MRAS was added
gene: MRAS was added to Monogenic short stature. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 34080768
Phenotypes for gene: MRAS were set to Noonan syndrome 11, OMIM:618499
Monogenic short stature v0.73 MAPK1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.73 MAPK1 Arina Puzriakova gene: MAPK1 was added
gene: MAPK1 was added to Monogenic short stature. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Noonan syndrome 13, OMIM:619087
Mode of pathogenicity for gene: MAPK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.72 KDM3B Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.72 KDM3B Arina Puzriakova gene: KDM3B was added
gene: KDM3B was added to Monogenic short stature. Sources: Victorian Clinical Genetics Services,Expert Review Amber
watchlist tags were added to gene: KDM3B.
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Diets-Jongmans syndrome, OMIM:618846; Diets-Jongmans syndrome, MONDO:0030012
Monogenic short stature v0.71 GGPS1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.71 GGPS1 Arina Puzriakova gene: GGPS1 was added
gene: GGPS1 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGPS1 were set to 32403198
Phenotypes for gene: GGPS1 were set to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518
Monogenic short stature v0.70 FOXP4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.70 FOXP4 Arina Puzriakova gene: FOXP4 was added
gene: FOXP4 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
gene-checked tags were added to gene: FOXP4.
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities
Monogenic short stature v0.69 CCDC186 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.69 CCDC186 Arina Puzriakova gene: CCDC186 was added
gene: CCDC186 was added to Monogenic short stature. Sources: Expert Review Amber,Literature
watchlist tags were added to gene: CCDC186.
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146; 28600779
Phenotypes for gene: CCDC186 were set to failure to thrive and developmental delay
Monogenic short stature v0.68 BTK Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.68 BTK Arina Puzriakova gene: BTK was added
gene: BTK was added to Monogenic short stature. Sources: Expert Review Amber
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BTK were set to 8013627; 7849697; 9554752
Phenotypes for gene: BTK were set to Isolated growth hormone deficiency, type III, with agammaglobulinaemia, OMIM:307200
Monogenic short stature v0.67 ZFP57 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.67 ZFP57 Arina Puzriakova gene: ZFP57 was added
gene: ZFP57 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFP57 were set to 18622393
Phenotypes for gene: ZFP57 were set to Diabetes mellitus, transient neonatal 1, OMIM:601410
Monogenic short stature v0.66 UBE2T Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.66 UBE2T Arina Puzriakova gene: UBE2T was added
gene: UBE2T was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, OMIM:616435
Monogenic short stature v0.65 TRIM37 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.65 TRIM37 Arina Puzriakova gene: TRIM37 was added
gene: TRIM37 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism, OMIM:253250
Monogenic short stature v0.64 TOP3A Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.64 TOP3A Arina Puzriakova gene: TOP3A was added
gene: TOP3A was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOP3A were set to Microcephaly, growth restriction, and increased sister chromatid exchange 2, OMIM:618097
Monogenic short stature v0.63 STAT5B Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.63 STAT5B Arina Puzriakova gene: STAT5B was added
gene: STAT5B was added to Monogenic short stature. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: STAT5B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: STAT5B were set to 16787985; 15827093; 17030597; 26703237; 29844444
Phenotypes for gene: STAT5B were set to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
Monogenic short stature v0.62 SRCAP Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.62 SRCAP Arina Puzriakova gene: SRCAP was added
gene: SRCAP was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome, OMIM:136140
Monogenic short stature v0.61 SPRED2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.61 SPRED2 Arina Puzriakova gene: SPRED2 was added
gene: SPRED2 was added to Monogenic short stature. Sources: Expert Review Green,Literature,NHS GMS
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, OMIM:619745
Monogenic short stature v0.60 SOS2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.78
Monogenic short stature v0.60 SOS2 Arina Puzriakova gene: SOS2 was added
gene: SOS2 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 26173643; 25795793
Phenotypes for gene: SOS2 were set to Noonan syndrome 9, OMIM:616559
Monogenic short stature v0.59 SOS1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.77
Monogenic short stature v0.59 SOS1 Arina Puzriakova gene: SOS1 was added
gene: SOS1 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOS1 were set to 17143285; 17143282; 17586837; 19438935
Phenotypes for gene: SOS1 were set to Noonan syndrome 4, OMIM:610733
Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.58 SLX4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.77
Monogenic short stature v0.58 SLX4 Arina Puzriakova gene: SLX4 was added
gene: SLX4 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLX4 were set to 21240277; 21240275
Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, OMIM:613951
Monogenic short stature v0.57 SHOX Arina Puzriakova Entity copied from Growth failure in early childhood v3.77
Monogenic short stature v0.57 SHOX Arina Puzriakova gene: SHOX was added
gene: SHOX was added to Monogenic short stature. Sources: Expert Review Green,NHS GMS
Pseudoautosomal region 1 tags were added to gene: SHOX.
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582
Monogenic short stature v0.56 SHOC2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.77
Monogenic short stature v0.56 SHOC2 Arina Puzriakova gene: SHOC2 was added
gene: SHOC2 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 19684605; 22528146; 23918763
Phenotypes for gene: SHOC2 were set to Noonan syndrome-like with loose anagen hair 1, OMIM:607721
Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.55 RRAS2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.77
Monogenic short stature v0.55 RRAS2 Arina Puzriakova gene: RRAS2 was added
gene: RRAS2 was added to Monogenic short stature. Sources: Expert Review Green,Expert Review,NHS GMS
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAS2 were set to 31130282
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12, OMIM:618624
Mode of pathogenicity for gene: RRAS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.54 RNPC3 Arina Puzriakova Entity copied from Growth failure in early childhood v3.77
Monogenic short stature v0.54 RNPC3 Arina Puzriakova gene: RNPC3 was added
gene: RNPC3 was added to Monogenic short stature. Sources: Expert Review Green,NHS GMS
gene-checked tags were added to gene: RNPC3.
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814; 33650182
Phenotypes for gene: RNPC3 were set to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160
Monogenic short stature v0.53 RIT1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.77
Monogenic short stature v0.53 RIT1 Arina Puzriakova gene: RIT1 was added
gene: RIT1 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RIT1 were set to 23791108; 25124994; 24939608
Phenotypes for gene: RIT1 were set to Noonan syndrome 8, OMIM:615355
Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.52 RAF1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.77
Monogenic short stature v0.52 RAF1 Arina Puzriakova gene: RAF1 was added
gene: RAF1 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAF1 were set to 17603483; 17603482
Phenotypes for gene: RAF1 were set to LEOPARD syndrome 2, OMIM:611554; Noonan syndrome 5, OMIM:611553
Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.51 PTPN11 Arina Puzriakova Entity copied from Growth failure in early childhood v3.77
Monogenic short stature v0.51 PTPN11 Arina Puzriakova gene: PTPN11 was added
gene: PTPN11 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 17603483; 11704759; 12529711; 12634870; 15384080; 15240615; 16263833; 17497712; 18678287
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1, OMIM:151100; Noonan syndrome 1, OMIM:163950
Monogenic short stature v0.50 PPP1CB Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.50 PPP1CB Arina Puzriakova gene: PPP1CB was added
gene: PPP1CB was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673; 27681385; 28211982
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, OMIM:617506
Monogenic short stature v0.49 PLK4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.49 PLK4 Arina Puzriakova gene: PLK4 was added
gene: PLK4 was added to Monogenic short stature. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK4 were set to 25344692; 25320347; 27650967
Phenotypes for gene: PLK4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
Monogenic short stature v0.48 PLAG1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.48 PLAG1 Arina Puzriakova gene: PLAG1 was added
gene: PLAG1 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAG1 were set to 28796236
Phenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4, OMIM:618907
Monogenic short stature v0.47 PIK3R1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.47 PIK3R1 Arina Puzriakova gene: PIK3R1 was added
gene: PIK3R1 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT syndrome, OMIM:269880
Monogenic short stature v0.46 PALB2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.46 PALB2 Arina Puzriakova gene: PALB2 was added
gene: PALB2 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PALB2 were set to 17200672; 17200671
Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, OMIM:610832
Monogenic short stature v0.45 OBSL1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.45 OBSL1 Arina Puzriakova gene: OBSL1 was added
gene: OBSL1 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OBSL1 were set to 21737058
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2, OMIM:612921
Monogenic short stature v0.44 NRAS Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.44 NRAS Arina Puzriakova gene: NRAS was added
gene: NRAS was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 19966803; 19775298
Phenotypes for gene: NRAS were set to Noonan syndrome 6, OMIM:613224
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.43 NPR2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.43 NPR2 Arina Puzriakova gene: NPR2 was added
gene: NPR2 was added to Monogenic short stature. Sources: NHS GMS,Expert list,Expert Review Green
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875
Monogenic short stature v0.42 NHLRC2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.42 NHLRC2 Arina Puzriakova gene: NHLRC2 was added
gene: NHLRC2 was added to Monogenic short stature. Sources: Expert Review Green,Literature
gene-checked tags were added to gene: NHLRC2.
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 29423877; 32435055
Phenotypes for gene: NHLRC2 were set to FINCA syndrome, OMIM:618278
Monogenic short stature v0.41 NBN Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.41 NBN Arina Puzriakova gene: NBN was added
gene: NBN was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, OMIM:251260
Monogenic short stature v0.40 NBAS Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.40 NBAS Arina Puzriakova gene: NBAS was added
gene: NBAS was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 31761904
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800
Monogenic short stature v0.39 MTX2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.39 MTX2 Arina Puzriakova gene: MTX2 was added
gene: MTX2 was added to Monogenic short stature. Sources: Expert Review Green,Expert Review,Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
Monogenic short stature v0.38 MSTO1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.38 MSTO1 Arina Puzriakova gene: MSTO1 was added
gene: MSTO1 was added to Monogenic short stature. Sources: Expert Review Green,Literature,NHS GMS
Q1_24_MOI, Q1_24_NHS_review tags were added to gene: MSTO1.
Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942; 37431817
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675
Monogenic short stature v0.37 MAP2K2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.37 MAP2K2 Arina Puzriakova gene: MAP2K2 was added
gene: MAP2K2 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K2 were set to 16439621; 21396583; 23379592
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4, OMIM:615280
Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.36 MAP2K1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.36 MAP2K1 Arina Puzriakova gene: MAP2K1 was added
gene: MAP2K1 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 16825433; 16439621; 21396583; 23321623
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3, OMIM:615279
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.35 LZTR1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.35 LZTR1 Arina Puzriakova gene: LZTR1 was added
gene: LZTR1 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 29469822; 25795793
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10, OMIM:616564 (AD); Noonan syndrome 2, OMIM:605275 (AR)
Monogenic short stature v0.34 KRAS Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.34 KRAS Arina Puzriakova gene: KRAS was added
gene: KRAS was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to 21396583
Phenotypes for gene: KRAS were set to Cardiofaciocutaneous syndrome 2, OMIM:615278; Noonan syndrome 3, OMIM:609942
Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.33 INTS1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.33 INTS1 Arina Puzriakova gene: INTS1 was added
gene: INTS1 was added to Monogenic short stature. Sources: Expert Review Green,Literature
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 30622326; 31428919
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571
Monogenic short stature v0.32 IGFALS Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.32 IGFALS Arina Puzriakova gene: IGFALS was added
gene: IGFALS was added to Monogenic short stature. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGFALS were set to 14762184; 16507628; 17726072; 18303074; 20591980; 21396577; 23488611; 24819402; 24423360; 27018247; 30717585; 36348166
Phenotypes for gene: IGFALS were set to Acid-labile subunit, deficiency of, OMIM:615961
Monogenic short stature v0.31 IGF2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.31 IGF2 Arina Puzriakova gene: IGF2 was added
gene: IGF2 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2 were set to 26154720
Phenotypes for gene: IGF2 were set to Silver-Russell syndrome 3, OMIM:616489
Monogenic short stature v0.30 IGF1R Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.30 IGF1R Arina Puzriakova gene: IGF1R was added
gene: IGF1R was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, OMIM:270450
Monogenic short stature v0.29 IGF1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.29 IGF1 Arina Puzriakova gene: IGF1 was added
gene: IGF1 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to Insulin-like growth factor I deficiency, OMIM:608747
Monogenic short stature v0.28 HRAS Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.28 HRAS Arina Puzriakova gene: HRAS was added
gene: HRAS was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 16170316; 16969868; 16443854; 21396583
Phenotypes for gene: HRAS were set to Costello syndrome, OMIM:218040
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.27 HMGA2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.27 HMGA2 Arina Puzriakova gene: HMGA2 was added
gene: HMGA2 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGA2 were set to 29655892
Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5, OMIM:618908
Monogenic short stature v0.26 GHR Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.26 GHR Arina Puzriakova gene: GHR was added
gene: GHR was added to Monogenic short stature. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron dwarfism, OMIM:262500
Monogenic short stature v0.25 FGFR3 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.25 FGFR3 Arina Puzriakova gene: FGFR3 was added
gene: FGFR3 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR3 were set to Hypochondroplasia, OMIM:146000; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Thanatophoric dysplasia, type I, OMIM:187600; Thanatophoric dysplasia, type II, OMIM:187601
Monogenic short stature v0.24 FANCL Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.24 FANCL Arina Puzriakova gene: FANCL was added
gene: FANCL was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCL were set to 16474160; 12724401; 25754594; 12973351; 19405097
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, OMIM:614083
Monogenic short stature v0.23 FANCI Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.23 FANCI Arina Puzriakova gene: FANCI was added
gene: FANCI was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCI were set to 17452773; 11239453
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, OMIM:609053
Monogenic short stature v0.22 FANCG Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.22 FANCG Arina Puzriakova gene: FANCG was added
gene: FANCG was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCG were set to 16493006; 9806548
Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, OMIM:614082
Monogenic short stature v0.21 FANCF Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.21 FANCF Arina Puzriakova gene: FANCF was added
gene: FANCF was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCF were set to 10615118
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, OMIM:603467
Monogenic short stature v0.20 FANCE Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.20 FANCE Arina Puzriakova gene: FANCE was added
gene: FANCE was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCE were set to 9147877; 9382107; 10205272; 7662964
Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, OMIM:600901
Monogenic short stature v0.19 FANCD2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.19 FANCD2 Arina Puzriakova gene: FANCD2 was added
gene: FANCD2 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCD2 were set to 11239454
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, OMIM:227646
Monogenic short stature v0.18 FANCC Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.18 FANCC Arina Puzriakova gene: FANCC was added
gene: FANCC was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCC were set to 16493006; 1574115
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, OMIM:227645
Monogenic short stature v0.17 FANCB Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.17 FANCB Arina Puzriakova gene: FANCB was added
gene: FANCB was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, OMIM:300514
Monogenic short stature v0.16 FANCA Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.16 FANCA Arina Puzriakova gene: FANCA was added
gene: FANCA was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCA were set to 16493006; 8896563
Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, OMIM:227650
Monogenic short stature v0.15 ERCC4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.15 ERCC4 Arina Puzriakova gene: ERCC4 was added
gene: ERCC4 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 24027083; 23623386; 23623389
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, OMIM:615272
Monogenic short stature v0.14 CUL7 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.14 CUL7 Arina Puzriakova gene: CUL7 was added
gene: CUL7 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome 1, OMIM:273750
Monogenic short stature v0.13 COG4 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.13 COG4 Arina Puzriakova gene: COG4 was added
gene: COG4 was added to Monogenic short stature. Sources: Expert Review Green,Literature
Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COG4 were set to 31949312; 30290151
Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM:618150
Mode of pathogenicity for gene: COG4 was set to Other
Monogenic short stature v0.12 CEP57 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.12 CEP57 Arina Puzriakova gene: CEP57 was added
gene: CEP57 was added to Monogenic short stature. Sources: Expert Review Green,Other
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP57 were set to 24259107; 21552266
Phenotypes for gene: CEP57 were set to Mosaic variegated aneuploidy syndrome 2, OMIM:614114
Monogenic short stature v0.11 CDKN1C Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.11 CDKN1C Arina Puzriakova gene: CDKN1C was added
gene: CDKN1C was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to IMAGE syndrome, OMIM:614732
Monogenic short stature v0.10 CCDC8 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.10 CCDC8 Arina Puzriakova gene: CCDC8 was added
gene: CCDC8 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3, OMIM:614205
Monogenic short stature v0.9 CBL Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.9 CBL Arina Puzriakova gene: CBL was added
gene: CBL was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBL were set to 20619386; 20543203; 19571318
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.8 BRIP1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.8 BRIP1 Arina Puzriakova gene: BRIP1 was added
gene: BRIP1 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRIP1 were set to 16116423; 16116424; 16153896; 14630800
Phenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J, OMIM:609054
Monogenic short stature v0.7 BRCA2 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.7 BRCA2 Arina Puzriakova gene: BRCA2 was added
gene: BRCA2 was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA2 were set to 14670928; 28185119; 11239453; 12065746; 24395671
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, OMIM:605724
Monogenic short stature v0.6 BRAF Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.6 BRAF Arina Puzriakova gene: BRAF was added
gene: BRAF was added to Monogenic short stature. Sources: Expert Review Green
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 16825433; 16474404; 19206169; 21396583
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, OMIM:115150; LEOPARD syndrome 3, OMIM:613707; Noonan syndrome 7, OMIM:613706
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic short stature v0.5 BLM Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.5 BLM Arina Puzriakova gene: BLM was added
gene: BLM was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome, OMIM:210900
Monogenic short stature v0.4 ANKRD11 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.4 ANKRD11 Arina Puzriakova gene: ANKRD11 was added
gene: ANKRD11 was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 21782149
Phenotypes for gene: ANKRD11 were set to KBG syndrome, OMIM:148050
Monogenic short stature v0.3 ANAPC1 Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.3 ANAPC1 Arina Puzriakova gene: ANAPC1 was added
gene: ANAPC1 was added to Monogenic short stature. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625
Monogenic short stature v0.2 ACAN Arina Puzriakova Entity copied from Growth failure in early childhood v3.76
Monogenic short stature v0.2 ACAN Arina Puzriakova gene: ACAN was added
gene: ACAN was added to Monogenic short stature. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACAN were set to 24762113; 27870580
Phenotypes for gene: ACAN were set to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM:165800 (AD); ?Spondyloepiphyseal dysplasia, Kimberley type, OMIM:608361 (AD); Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM:612813 (AR)
Monogenic short stature v0.1 Arina Puzriakova List of related panels changed from to R453
Monogenic short stature v0.0 Arina Puzriakova Added Panel Monogenic short stature
Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease