Deafness_IsolatedAndComplex
Gene: THUMPD1EnsemblGeneIds (GRCh38): ENSG00000066654
EnsemblGeneIds (GRCh37): ENSG00000066654
OMIM: 616662, Gene2Phenotype
THUMPD1 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989
Chern Lim (Victorian Clinical Genetics Services)
Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: OtherCreated: 8 Feb 2022, 3:47 a.m. | Last Modified: 8 Feb 2022, 3:52 a.m.
Panel Version: 1.114
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989
- OMIM
- 616662
- Clinvar variants
- Variants in THUMPD1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: THUMPD1 were changed from Syndromic disease, MONDO:0002254, THUMPD1-related to Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thumpd1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: THUMPD1 were changed from Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR to Syndromic disease, MONDO:0002254, THUMPD1-related
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: thumpd1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chern Lim (Victorian Clinical Genetics Services)gene: THUMPD1 was added gene: THUMPD1 was added to Deafness_IsolatedAndComplex. Sources: Other Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: THUMPD1 were set to Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR Review for gene: THUMPD1 was set to GREEN gene: THUMPD1 was marked as current diagnostic