Activity
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| Intellectual disability v11.72 | DRG1 |
Achchuthan Shanmugasundram changed review comment from: PMID:37179472 (2023) reported four patients from three different families with biallelic DRG1 variants and with a neurodevelopmental syndrome. Two of these three families are of middle eastern descent and one family is of Singaporean descent. Three stop-gained variants p.Gly54Ter, p.Arg140Ter, p.Lys263Ter, and a missense variant p.Asn248Phe were identified from these patients. All these patients presented with intrauterine growth restriction at birth, global developmental delay, failure to thrive, primary microcephaly, intellectual deficit, and craniofacial anomalies. Severe microcephaly (< -3SD) was reported in two of the families. There is also functional evidence available for the variants from HeLa cells which showed that the variants result in loss of function. Evidence from mouse model showed that Drg1 is ubiquitously expressed in mouse embryos and is essential for proper murine development, and homozygous Drg1 knockout led to significantly decreased survival rates compared to controls. This gene has been associated with relevant phenotypes in OMIM (MIM #620641) and Gene2Phenotype (with 'moderate' rating on the DD panel), and these records were last accessed on 30 October 2026. Sources: Literature; to: PMID:37179472 (2023) reported four patients from three different families with biallelic DRG1 variants and with a neurodevelopmental syndrome. Two of these three families are of middle eastern descent and one family is of Singaporean descent. Three stop-gained variants p.Gly54Ter, p.Arg140Ter, p.Lys263Ter, and a missense variant p.Asn248Phe were identified from these patients. All these patients presented with intrauterine growth restriction at birth, global developmental delay, failure to thrive, primary microcephaly, intellectual deficit, and craniofacial anomalies. Severe microcephaly (<-3 SD) was reported in two of the families. There is also functional evidence available for the variants from HeLa cells which showed that the variants result in loss of function. Evidence from mouse model showed that Drg1 is ubiquitously expressed in mouse embryos and is essential for proper murine development, and homozygous Drg1 knockout led to significantly decreased survival rates compared to controls. This gene has been associated with relevant phenotypes in OMIM (MIM #620641) and Gene2Phenotype (with 'moderate' rating on the DD panel), and these records were last accessed on 30 October 2026. Sources: Literature |
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| Intellectual disability v11.72 | DRG1 | Achchuthan Shanmugasundram Classified gene: DRG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.72 | DRG1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated families reported with biallelic DRG1 variants and a syndromic neurodevelopmental disorder that includes global developmental delay and/or intellectual disability. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.72 | DRG1 | Achchuthan Shanmugasundram Gene: drg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.71 | DRG1 | Achchuthan Shanmugasundram Tag Q4_26_promote_green tag was added to gene: DRG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.71 | DRG1 |
Achchuthan Shanmugasundram gene: DRG1 was added gene: DRG1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to 37179472 Phenotypes for gene: DRG1 were set to Tan-Almurshedi syndrome, OMIM:620641; Tan-Almurshedi syndrome, MONDO:0957990 Review for gene: DRG1 was set to GREEN Added comment: PMID:37179472 (2023) reported four patients from three different families with biallelic DRG1 variants and with a neurodevelopmental syndrome. Two of these three families are of middle eastern descent and one family is of Singaporean descent. Three stop-gained variants p.Gly54Ter, p.Arg140Ter, p.Lys263Ter, and a missense variant p.Asn248Phe were identified from these patients. All these patients presented with intrauterine growth restriction at birth, global developmental delay, failure to thrive, primary microcephaly, intellectual deficit, and craniofacial anomalies. Severe microcephaly (< -3SD) was reported in two of the families. There is also functional evidence available for the variants from HeLa cells which showed that the variants result in loss of function. Evidence from mouse model showed that Drg1 is ubiquitously expressed in mouse embryos and is essential for proper murine development, and homozygous Drg1 knockout led to significantly decreased survival rates compared to controls. This gene has been associated with relevant phenotypes in OMIM (MIM #620641) and Gene2Phenotype (with 'moderate' rating on the DD panel), and these records were last accessed on 30 October 2026. Sources: Literature |
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| Intellectual disability v3.908 | NDRG1 | Sarah Leigh Source: Expert Review Amber was removed from gene: NDRG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | NDRG1 | Louise Daugherty commented on NDRG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | NDRG1 | BRIDGE consortium edited their review of NDRG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | NDRG1 | BRIDGE consortium edited their review of NDRG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | NDRG1 | Louise Daugherty classified NDRG1 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | NDRG1 | Louise Daugherty commented on NDRG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability | NDRG1 | BRIDGE consortium reviewed NDRG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||