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Intellectual disability v5.302 TCEAL1 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TCEAL1.
Intellectual disability v5.286 TCEAL1 Arina Puzriakova reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v5.286 TCEAL1 Arina Puzriakova Source NHS GMS was added to TCEAL1.
Source Expert Review Green was added to TCEAL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v5.165 TCEAL1 Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
Intellectual disability v5.165 TCEAL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
Intellectual disability v5.165 TCEAL1 Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.165 TCEAL1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.165 TCEAL1 Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
Intellectual disability v5.165 TCEAL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
Intellectual disability v5.165 TCEAL1 Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
Intellectual disability v5.164 TCEAL1 Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v5.163 TCEAL1 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TCEAL1.
Intellectual disability v5.163 TCEAL1 Achchuthan Shanmugasundram changed review comment from: PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behavior, and mildly dysmorphic facial features.

This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype.
Sources: Literature; to: PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behaviour, and mildly dysmorphic facial features.

This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype.
Sources: Literature
Intellectual disability v5.163 TCEAL1 Achchuthan Shanmugasundram gene: TCEAL1 was added
gene: TCEAL1 was added to Intellectual disability - microarray and sequencing. Sources: Literature
Mode of inheritance for gene: TCEAL1 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: TCEAL1 were set to 36368327
Phenotypes for gene: TCEAL1 were set to Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, OMIM:301094
Review for gene: TCEAL1 was set to GREEN
Added comment: PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behavior, and mildly dysmorphic facial features.

This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype.
Sources: Literature