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| Intellectual disability syndromic and non-syndromic v2.97 | DDX1 | chirag patel Marked gene: DDX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.97 | DDX1 | chirag patel Gene: ddx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.97 | DDX1 | chirag patel Classified gene: DDX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.97 | DDX1 | chirag patel Gene: ddx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.96 | DDX1 |
chirag patel gene: DDX1 was added gene: DDX1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: DDX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DDX1 were set to Neurodevelopmental disorder, MONDO:0700092, DDX1-related Review for gene: DDX1 was set to AMBER Added comment: ESHG 2026 9 unrelated individuals with 7 different rare heterozygous de novo variants (6 missense, 1 splice) involving conserved residues in critical domains of DDX1 gene. Individuals presented with developmental delay, hypotonia (9/9), distinctive facial gestalt (9/9), behavioral dysregulation (8/9), hand/foot skeletal anomalies (7/9), seizures (4/9), spasticity (4/9), and ataxia (3/9). DEAD/DExH-box RNA (DDX) helicases are key regulators of RNA metabolism and cellular stress responses, and their dysfunction has been associated with distinct neurodevelopmental syndromes. DDX1 regulates RNA metabolism and genome integrity, and is an essential regulator of cellular responses to genotoxic and environmental stress. In silico analysis predicted all variants decrease protein stability. Patient-derived fibroblasts showed impaired radiation-induced DNA double-strand break repair, defective protection of specific target mRNAs under oxidative stress conditions, increased production of reactive oxygen species, and reduced mitochondrial function. Sources: Other |
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| Intellectual disability syndromic and non-syndromic v1.360 | DDX11 |
chirag patel Source Genetic Health Queensland was removed from DDX11. Source ClinGen was added to DDX11. Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 to Warsaw breakage syndrome, MONDO:0013252 Publications for gene DDX11 were changed from 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203 to 20137776, 23033317, 30216658, 30924321, 32855419, 36703504, 26089203 |
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| Intellectual disability syndromic and non-syndromic v0.5631 | DDX17 | Elena Savva Classified gene: DDX17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5631 | DDX17 | Elena Savva Gene: ddx17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5630 | DDX17 | Elena Savva Classified gene: DDX17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5630 | DDX17 | Elena Savva Gene: ddx17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5629 | DDX17 | Elena Savva Marked gene: DDX17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5629 | DDX17 | Elena Savva Gene: ddx17 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5627 | DDX17 |
Melanie Marty gene: DDX17 was added gene: DDX17 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX17 were set to https://www.medrxiv.org/search/DDX17 Phenotypes for gene: DDX17 were set to Neurodevelopmental disorder (MONDO#0700092), DDX17-related Review for gene: DDX17 was set to GREEN Added comment: https://www.medrxiv.org/search/DDX17 (pre-print) 11 patients with het de novo variants in DDX17 (5 NMD, 6 missense). Patient's phenotype included mild-moderate intellectual disability, delayed speech and language development and global developmental delay. 64% had dysmorphic facial features. Some patients also have gross and fine motor delay, generalized hypotonia, stereotypy, and evidence of autism spectrum disorder. Knockdown of Ddx17 in newborn mice showed impaired axon outgrowth and reduced axon outgrowth and branching was observed in primary cortical neurons in vitro. This result was replicated in Crispant Xenopus tadpoles, which had clear functional neural defects and showed an impaired neurobehavioral phenotype. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.3675 | DDX11 | Zornitza Stark Marked gene: DDX11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3675 | DDX11 | Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3675 | DDX11 | Zornitza Stark Phenotypes for gene: DDX11 were changed from to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3674 | DDX11 | Zornitza Stark Publications for gene: DDX11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3673 | DDX11 | Zornitza Stark Mode of inheritance for gene: DDX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.3672 | DDX11 | Zornitza Stark reviewed gene: DDX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137776, 23033317, 30216658; Phenotypes: Warsaw breakage syndrome, MIM# 613398, MONDO:0013252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | DDX11 |
Zornitza Stark gene: DDX11 was added gene: DDX11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDX11 was set to Unknown |
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