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Intellectual disability - microarray and sequencing v5.497 SPATA5 Arina Puzriakova Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome, 616577 to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
Intellectual disability - microarray and sequencing v5.313 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Intellectual disability - microarray and sequencing v5.313 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1
Intellectual disability - microarray and sequencing v5.285 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
Intellectual disability - microarray and sequencing v5.285 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Intellectual disability - microarray and sequencing v4.61 SPATA5L1 Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
Intellectual disability - microarray and sequencing v4.53 SPATA5L1 Arina Puzriakova Tag Q1_22_rating was removed from gene: SPATA5L1.
Intellectual disability - microarray and sequencing v4.53 SPATA5L1 Arina Puzriakova reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability - microarray and sequencing v4.52 SPATA5L1 Arina Puzriakova Source NHS GMS was added to SPATA5L1.
Source Expert Review Green was added to SPATA5L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1491 SPATA5L1 Ivone Leong Classified gene: SPATA5L1 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.1491 SPATA5L1 Ivone Leong Gene: spata5l1 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.1490 SPATA5L1 Ivone Leong Tag Q1_22_rating tag was added to gene: SPATA5L1.
Intellectual disability - microarray and sequencing v3.1490 SPATA5L1 Ivone Leong Phenotypes for gene: SPATA5L1 were changed from Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Intellectual disability - microarray and sequencing v3.1478 SPATA5L1 Zornitza Stark gene: SPATA5L1 was added
gene: SPATA5L1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

~53% of patients had ID.
Sources: Literature
Intellectual disability - microarray and sequencing SPATA5 Louise Daugherty classified SPATA5 as Green List (high evidence)
Intellectual disability - microarray and sequencing SPATA5 Rachel Jones classified SPATA5 as Green List (high evidence)
Intellectual disability - microarray and sequencing SPATA5 Rachel Jones classified SPATA5 as Green List (high evidence)
Intellectual disability - microarray and sequencing SPATA5 Rachel Jones reviewed gene: SPATA5
Intellectual disability - microarray and sequencing SPATA5 BRIDGE consortium edited their review of SPATA5
Intellectual disability - microarray and sequencing SPATA5 Louise Daugherty classified SPATA5 as amber
Intellectual disability - microarray and sequencing SPATA5 Louise Daugherty commented on SPATA5
Intellectual disability - microarray and sequencing SPATA5 BRIDGE consortium reviewed SPATA5