Activity
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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